ENSG00000111775
Homo sapiens | |
Features
| Gene ID: | ENSG00000111775 | | | | | Biological name : | COX6A1 | | | | | Synonyms : | COX6A1 / cytochrome c oxidase subunit 6A1 / P12074 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 12 | | Strand: | 1 | | Band: | q24.31 | | Gene start: | 120438090 | | Gene end: | 120440742 | | | | | Corresponding Affymetrix probe sets: | 200925_at (Human Genome U133 Plus 2.0 Array) 224344_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000229379
NCBI entrez gene - 1337
See in Manteia.
OMIM - 602072
RefSeq - NM_004373
RefSeq Peptide - NP_004364
swissprot - H6SG15
swissprot - P12074
Ensembl - ENSG00000111775
| | | | | Related genetic diseases (OMIM): | 616039 - Charcot-Marie-Tooth disease, recessive intermediate D, 616039 |
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed
Ortholog prediction (from Ensembl)
Paralog prediction (from Ensembl)
Protein motifs (from Interpro)
| IPR001349 | Cytochrome c oxidase, subunit VIa | | IPR018507 | Cytochrome c oxidase, subunit VIa, conserved site | | IPR036418 | Cytochrome c oxidase, subunit VIa superfamily |
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
| HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| | HP:0001265 | Hyporeflexia | |
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| | HP:0001284 | Areflexia | |
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| | HP:0001761 | Pes cavus | |
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| | HP:0002936 | Distal sensory impairment | |
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| | HP:0003376 | Steppage gait | "An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again." [HPO:curators] |
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| | HP:0003383 | Onion bulb formations on nerve biopsy | |
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| | HP:0003677 | Slow progression | |
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| | HP:0009027 | Foot dorsiflexor weakness | |
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Interacting proteins (from Reactome)
No match
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