ENSMUSG00000029223


Mus musculus

Features
Gene ID: ENSMUSG00000029223
  
Biological name :Uchl1
  
Synonyms : Q9R0P9 / ubiquitin carboxy-terminal hydrolase L1 / Uchl1
  
Possible biological names infered from orthology : P09936 / ubiquitin C-terminal hydrolase L1
  
Species: Mus musculus
  
Chr. number: 5
Strand: 1
Band: C3.1
Gene start: 66676091
Gene end: 66687234
  
Corresponding Affymetrix probe sets: 10522208 (MoGene1.0st)   1448260_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000031131
NCBI entrez gene - 22223     See in Manteia.
MGI - MGI:103149
RefSeq - NM_011670
RefSeq Peptide - NP_035800
swissprot - Q9R0P9
Ensembl - ENSMUSG00000029223
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 uchl1ENSDARG00000026871Danio rerio
 UCHL1ENSGALG00000014261Gallus gallus
 UCHL1ENSG00000154277Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Uchl3 / Q9JKB1 / ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase) / P15374* / ubiquitin C-terminal hydrolase L3*ENSMUSG0000002211154
Uchl4 / P58321 / ubiquitin carboxyl-terminal esterase L4 / UCHL3* / P15374* / ubiquitin C-terminal hydrolase L3*ENSMUSG0000003533753


Protein motifs (from Interpro)
Interpro ID Name
 IPR001578  Peptidase C12, ubiquitin carboxyl-terminal hydrolase
 IPR030297  Ubiquitin carboxyl-terminal hydrolase L1
 IPR036959  Peptidase C12, ubiquitin carboxyl-terminal hydrolase superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002931 response to ischemia IMP
 biological_processGO:0006508 proteolysis IEA
 biological_processGO:0006511 ubiquitin-dependent protein catabolic process IEA
 biological_processGO:0007409 axonogenesis IMP
 biological_processGO:0007412 axon target recognition IMP
 biological_processGO:0007628 adult walking behavior IMP
 biological_processGO:0008283 cell proliferation IMP
 biological_processGO:0016579 protein deubiquitination IBA
 biological_processGO:0019233 sensory perception of pain IEA
 biological_processGO:0019896 axonal transport of mitochondrion IMP
 biological_processGO:0042755 eating behavior IGI
 biological_processGO:0043407 negative regulation of MAP kinase activity IEA
 biological_processGO:0048747 muscle fiber development IGI
 biological_processGO:0050905 neuromuscular process IMP
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005654 nucleoplasm IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0030424 axon IDA
 cellular_componentGO:0043025 neuronal cell body IDA
 cellular_componentGO:0043209 myelin sheath IDA
 cellular_componentGO:0044306 neuron projection terminus IDA
 cellular_componentGO:1904115 axon cytoplasm IEA
 molecular_functionGO:0004197 cysteine-type endopeptidase activity IEA
 molecular_functionGO:0004843 thiol-dependent ubiquitin-specific protease activity IDA
 molecular_functionGO:0008233 peptidase activity IEA
 molecular_functionGO:0008234 cysteine-type peptidase activity IEA
 molecular_functionGO:0008242 omega peptidase activity IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0016874 ligase activity IEA
 molecular_functionGO:0031625 ubiquitin protein ligase binding IEA
 molecular_functionGO:0031694 alpha-2A adrenergic receptor binding IEA
 molecular_functionGO:0036459 thiol-dependent ubiquitinyl hydrolase activity IEA
 molecular_functionGO:0043130 ubiquitin binding IEA


Pathways (from Reactome)
Pathway description
UCH proteinases


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000160 kyphosis "forward curvature of the spine, characterized by extensive flexion. " [J:62023, J:66943, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
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Allelic Composition: Uchl1tm1Dgen/Uchl1tm1Dgen
Genetic Background: B6.129P2-Uchl1tm1Dgen/Mmnc

 MP:0000556 abnormal hindlimb morphology "malformation of the entire posterior extremities" [MGI:tc]
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Allelic Composition: Tfap2atm2Will/Tfap2atm2Will,HhatTg(TFAP2A-cre)1Will/0
Genetic Background: Not Specified

 MP:0000745 tremors "repetitive, cyclical movements of the body or a body part; usually involuntary, but can also manifest in response to an attempt at movement" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Tfap2atm2Will/Tfap2atm2Will,HhatTg(TFAP2A-cre)1Will/0
Genetic Background: Not Specified

 MP:0000753 paralysis "loss of power of voluntary movement in a muscle through injury or disease of its nerve supply" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Tfap2atm2Will/Tfap2atm2Will,HhatTg(TFAP2A-cre)1Will/0
Genetic Background: Not Specified

Allelic Composition: Uchl1gad/Uchl1gad,Uchl3tm1Tilg/Uchl3tm1Tilg
Genetic Background: involves: 129S1/Sv * C57BL/6J * CBA/Nga * RFM/Nga

Allelic Composition: Uchl1gad-2J/Uchl1gad-2J
Genetic Background: B6.Cg-Uchl1gad-2J/GrsrJ

 MP:0000755 hindlimb paralysis "loss of power of voluntary movement in the muscles of the hindlimb through injury or disease of it or its nerve supply" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Uchl1tm1Dgen/Uchl1tm1Dgen
Genetic Background: B6.129P2-Uchl1tm1Dgen/Mmnc

 MP:0000756 forelimb paralysis "loss of power of voluntary movement in muscles of the forlimb through injury or disease of it or its nerve supply" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Uchl1tm1Dgen/Uchl1tm1Dgen
Genetic Background: B6.129P2-Uchl1tm1Dgen/Mmnc

 MP:0000846 abnormal medulla oblongata "anomaly in the most caudal region of the brainstem that lies directly rostral to the spinal cord; includes regions responsible for autonomic functions such as digestion, breathing and control of heart rate" [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Tfap2atm2Will/Tfap2atm2Will,HhatTg(TFAP2A-cre)1Will/0
Genetic Background: Not Specified

 MP:0000938 motor neuron degeneration "retrogressive impairment of function or destruction of the cells that innervate an effector (muscle or glandular) tissue" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Il7rtm1Iku/Il7rtm1Iku
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Allelic Composition: Uchl1tm1Dgen/Uchl1tm1Dgen
Genetic Background: B6.129P2-Uchl1tm1Dgen/Mmnc

 MP:0000961 abnormal dorsal root ganglia morphology "malformed group of nerve cell bodies of each segmental nerve projecting from the spinal cord " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:60159]
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Allelic Composition: Tfap2atm2Will/Tfap2atm2Will,HhatTg(TFAP2A-cre)1Will/0
Genetic Background: Not Specified

Allelic Composition: Uchl1gad/Uchl1gad,Uchl3tm1Tilg/Uchl3tm1Tilg
Genetic Background: involves: 129S1/Sv * C57BL/6J * CBA/Nga * RFM/Nga

 MP:0001053 abnormal neuromuscular synapse "malformed or absent membrane to membrane contact of a motor axon and a muscle myofiber resulting in aberrant transmission of nerve impulses" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:60159, J:47439]
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Allelic Composition: Uchl1tm1Dgen/Uchl1tm1Dgen
Genetic Background: B6.129P2-Uchl1tm1Dgen/Mmnc

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Tfap2atm2Will/Tfap2atm2Will,HhatTg(TFAP2A-cre)1Will/0
Genetic Background: Not Specified

Allelic Composition: Uchl1gad/Uchl1gad,Uchl3tm1Tilg/Uchl3tm1Tilg
Genetic Background: involves: 129S1/Sv * C57BL/6J * CBA/Nga * RFM/Nga

 MP:0001263 weight loss "progressive reduction of body weight below normal average for age" [J:45400]
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Allelic Composition: Tfap2atm2Will/Tfap2atm2Will,HhatTg(TFAP2A-cre)1Will/0
Genetic Background: Not Specified

Allelic Composition: Uchl1tm1Dgen/Uchl1tm1Dgen
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Uchl1gad-J/Uchl1gad-J
Genetic Background: involves: BALB/c * C57BL/6

Allelic Composition: Uchl1gad-2J/Uchl1gad-2J
Genetic Background: B6.Cg-Uchl1gad-2J/GrsrJ

 MP:0001388 abnormal stationary movement "altered ability or inability to change body posture or shift a body part" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Tfap2atm2Will/Tfap2atm2Will,HhatTg(TFAP2A-cre)1Will/0
Genetic Background: Not Specified

 MP:0001393 ataxia "inability to coordinate voluntary muscular movements" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:67231]
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Allelic Composition: Tfap2atm2Will/Tfap2atm2Will,HhatTg(TFAP2A-cre)1Will/0
Genetic Background: Not Specified

Allelic Composition: Uchl1gad/Uchl1gad,Uchl3tm1Tilg/Uchl3tm1Tilg
Genetic Background: involves: 129S1/Sv * C57BL/6J * CBA/Nga * RFM/Nga

Allelic Composition: Uchl1gad-2J/Uchl1gad-2J
Genetic Background: B6.Cg-Uchl1gad-2J/GrsrJ

 MP:0001399 hyperactivity "general restlessness or excessive movement; more frequent movement from one place to another" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409, J:57125]
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Allelic Composition: Tmem79tm1.1(KOMP)Wtsi/Tmem79tm1.1(KOMP)Wtsi
Genetic Background: C57BL/6N-Tmem79tm1.1(KOMP)Wtsi/J

 MP:0001405 impaired coordination "reduced ability to execute integrated movements of muscle" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Uchl1tm1Dgen/Uchl1tm1Dgen
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Uchl1gad-J/Uchl1gad-J
Genetic Background: involves: BALB/c * C57BL/6

Allelic Composition: Tg(Thy1-Snca)1S13Putt/0,Uchl1tm1Dgen/Uchl1tm1Dgen
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0001406 abnormal gait "unusual or distinctive way of walking" [J:65038]
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Allelic Composition: Tfap2atm2Will/Tfap2atm2Will,HhatTg(TFAP2A-cre)1Will/0
Genetic Background: Not Specified

Allelic Composition: Uchl1gad/Uchl1gad,Uchl3tm1Tilg/Uchl3tm1Tilg
Genetic Background: involves: 129S1/Sv * C57BL/6J * CBA/Nga * RFM/Nga

Allelic Composition: Uchl1tm1Dgen/Uchl1tm1Dgen
Genetic Background: B6.129P2-Uchl1tm1Dgen/Mmnc

 MP:0001513 limb grasping "mice clasp front and/or hind feet almost immediately upon being lifted by tail" [cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
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Allelic Composition: Uchl1tm1Dgen/Uchl1tm1Dgen
Genetic Background: B6.129P2-Uchl1tm1Dgen/Mmnc

 MP:0001973 increased thermal nociceptive threshold "a greater than average point at which thermal pain sensation is first detectable" [What s Wrong With My Mouse?:ISBN 0-471-31639-3, J:17194]
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Allelic Composition: Uchl1tm1Dgen/Uchl1tm1Dgen
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Tfap2atm2Will/Tfap2atm2Will,HhatTg(TFAP2A-cre)1Will/0
Genetic Background: Not Specified

Allelic Composition: Uchl1gad/Uchl1gad,Uchl3tm1Tilg/Uchl3tm1Tilg
Genetic Background: involves: 129S1/Sv * C57BL/6J * CBA/Nga * RFM/Nga

Allelic Composition: Uchl1gad-J/Uchl1gad-J
Genetic Background: involves: BALB/c * C57BL/6

Allelic Composition: Uchl1tm1Dgen/Uchl1tm1Dgen
Genetic Background: B6.129P2-Uchl1tm1Dgen/Mmnc

Allelic Composition: Uchl1gad-2J/Uchl1gad-2J
Genetic Background: B6.Cg-Uchl1gad-2J/GrsrJ

Allelic Composition: Tg(Thy1-Snca)1S13Putt/0,Uchl1tm1Dgen/Uchl1tm1Dgen
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0002229 CNS neurodegeneration "a retrogressive impairment of function or destruction of neural tissue" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Uchl1gad-2J/Uchl1gad-2J
Genetic Background: B6.Cg-Uchl1gad-2J/GrsrJ

 MP:0002913 abnormal PNS synaptic transmission "defect in the communication from a neuron to a target across a synapse in the peripheral nervous system" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Uchl1tm1Dgen/Uchl1tm1Dgen
Genetic Background: B6.129P2-Uchl1tm1Dgen/Mmnc

 MP:0002914 abnormal endplate potential activity "defect in the excitatory response of peripheral synapses to stimulation; these amplitudes are larger than central synapse potentials" [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Uchl1tm1Dgen/Uchl1tm1Dgen
Genetic Background: B6.129P2-Uchl1tm1Dgen/Mmnc

 MP:0002916 increased synaptic depression "increase in the duration of the reduction of effectiveness of synaptic connections between neurons and target after repetitive stimulation" [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Uchl1tm1Dgen/Uchl1tm1Dgen
Genetic Background: B6.129P2-Uchl1tm1Dgen/Mmnc

 MP:0002920 reduced paired-pulse facilitation "decrease in the response of central synapses when activated twice in rapid succession; indicative of defects in short-term plasticity due to lack of increase of neurotransmitter release at the second stimulus" [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Uchl1tm1Dgen/Uchl1tm1Dgen
Genetic Background: B6.129P2-Uchl1tm1Dgen/Mmnc

 MP:0002968 increased circulating alkaline phosphatase level "elevated activity of this enzyme, which hydrolyzes orthophosphoric monoesters, found in the blood" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Tmem79tm1.1(KOMP)Wtsi/Tmem79tm1.1(KOMP)Wtsi
Genetic Background: C57BL/6N-Tmem79tm1.1(KOMP)Wtsi/J

 MP:0003063 increased coping response "enhanced ability to respond productively to a stressful situation" [RGD:Rat Genome Database submission]
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Allelic Composition: Uchl1tm1Dgen/Uchl1tm1Dgen
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0003158 dysphagia "difficulty in swallowing food or liquid" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Uchl1gad/Uchl1gad,Uchl3tm1Tilg/Uchl3tm1Tilg
Genetic Background: involves: 129S1/Sv * C57BL/6J * CBA/Nga * RFM/Nga

 MP:0003225 axonal dystrophy "axon degeneration resulting from inadequate or faulty metabolism" [RGD:Rat Genome Database submission]
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Allelic Composition: Tfap2atm2Will/Tfap2atm2Will,HhatTg(TFAP2A-cre)1Will/0
Genetic Background: Not Specified

Allelic Composition: Uchl1gad/Uchl1gad,Uchl3tm1Tilg/Uchl3tm1Tilg
Genetic Background: involves: 129S1/Sv * C57BL/6J * CBA/Nga * RFM/Nga

 MP:0003312 abnormal locomotor coordination "reduced ability of an animal to maintain skillful and effective interaction of movements while engaging in locomotor activity" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Uchl1gad-2J/Uchl1gad-2J
Genetic Background: B6.Cg-Uchl1gad-2J/GrsrJ

 MP:0003354 astrocytosis "a proliferation or spread of astrocytes in the area of a degenerative lesion or damaged tissue" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Tg(Thy1-Snca)1S13Putt/0,Uchl1tm1Dgen/Uchl1tm1Dgen
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0003990 decreased neurotransmitter release "reduced secretion of endogenous signaling molecules normally secreted by neurons that alter the behavior of neurons or effector cells" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Uchl1tm1Dgen/Uchl1tm1Dgen
Genetic Background: B6.129P2-Uchl1tm1Dgen/Mmnc

 MP:0004174 abnormal spine curvature "deviation from the typical S-shape of the spine" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Tmem79tm1.1(KOMP)Wtsi/Tmem79tm1.1(KOMP)Wtsi
Genetic Background: C57BL/6N-Tmem79tm1.1(KOMP)Wtsi/J

 MP:0004835 abnormal miniature endplate potential "defect in the size or duration of spontaneous currents detected in PNS postsynaptic cells that occur in the absence of an excitatory impulse" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Uchl1tm1Dgen/Uchl1tm1Dgen
Genetic Background: B6.129P2-Uchl1tm1Dgen/Mmnc

 MP:0004859 abnormal synaptic plasticity "anomaly in the ability of a synapse to change its strength as a result of successive activations" [MESH:National Library of Medicine_Medical Subject Headings, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Uchl1tm1Dgen/Uchl1tm1Dgen
Genetic Background: B6.129P2-Uchl1tm1Dgen/Mmnc

 MP:0004924 abnormal behavior "anomalies in the actions, reactions, or performance of an organism in response to external or internal stimuli compared to controls" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Tmem79tm1.1(KOMP)Wtsi/Tmem79tm1.1(KOMP)Wtsi
Genetic Background: C57BL/6N-Tmem79tm1.1(KOMP)Wtsi/J

 MP:0005405 axon degeneration "retrogressive pathologic change in the single process of a nerve cell " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Tfap2atm2Will/Tfap2atm2Will,HhatTg(TFAP2A-cre)1Will/0
Genetic Background: Not Specified

Allelic Composition: Uchl1gad/Uchl1gad
Genetic Background: Not Specified

Allelic Composition: Uchl1gad/Uchl1gad,Uchl3tm1Tilg/Uchl3tm1Tilg
Genetic Background: involves: 129S1/Sv * C57BL/6J * CBA/Nga * RFM/Nga

Allelic Composition: Uchl1tm1Dgen/Uchl1tm1Dgen
Genetic Background: B6.129P2-Uchl1tm1Dgen/Mmnc

 MP:0008493 alpha-synuclein inclusion body "formation of aggregates of the alpha-synuclein protein in neural and glial tissue; often seen in neurodegenerative disorders such as Parkinson s disease" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Tg(Thy1-Snca)1S13Putt/0,Uchl1tm1Dgen/Uchl1tm1Dgen
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0009677 abnormal spinal cord dorsal column morphology "any structural anomaly of the wedge-shaped fiber bundle of white matter in the dorsomedial side of the spinal cord that is made up of the fasciculus gracilis and fasciculus cuneatus; it is part of the ascending posterior column-medial lemniscus pathway that is important for well-localized fine touch and conscious proprioception" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", ISBN-10:0940780577 "Goldberg, S, Clinical Neuroanatomy Made Ridiculously Simple, 3rd edition"]
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Allelic Composition: Tfap2atm2Will/Tfap2atm2Will,HhatTg(TFAP2A-cre)1Will/0
Genetic Background: Not Specified

 MP:0010053 decreased grip strength "reduced ability to grasp and hold objects, often measured as time spent hanging from an object or wire" [ISBN:0471316393 "Crawley, JN, What s Wrong with my Mouse: Behavioral Phenotyping of Transgenic and Knockout Mice"]
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Allelic Composition: Uchl1tm1Dgen/Uchl1tm1Dgen
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Tg(Thy1-Snca)1S13Putt/0,Uchl1tm1Dgen/Uchl1tm1Dgen
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

0 s.

 
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