ENSG00000166228
Homo sapiens | |
Features
| Gene ID: | ENSG00000166228 | | | | | Biological name : | PCBD1 | | | | | Synonyms : | P61457 / PCBD1 / pterin-4 alpha-carbinolamine dehydratase 1 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 10 | | Strand: | -1 | | Band: | q22.1 | | Gene start: | 70882280 | | Gene end: | 70888784 | | | | | Corresponding Affymetrix probe sets: | 203557_s_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000299299
NCBI entrez gene - 5092
See in Manteia.
OMIM - 126090
RefSeq - NM_000281
RefSeq Peptide - NP_000272
swissprot - P61457
Ensembl - ENSG00000166228
| | | | | Related genetic diseases (OMIM): | 264070 - Hyperphenylalaninemia, BH4-deficient, D, 264070 |
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)
| PCBD2 / Q9H0N5 / pterin-4 alpha-carbinolamine dehydratase 2 | ENSG00000132570 | 61 |
Protein motifs (from Interpro)
| IPR001533 | Pterin 4 alpha carbinolamine dehydratase | | IPR036428 | Pterin 4 alpha carbinolamine dehydratase 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] |
Show
| | HP:0001252 | Muscular hypotonia | "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators] |
Show
| | HP:0001270 | Motor retardation | |
Show
| | HP:0001276 | Hypertonia | |
Show
| | HP:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
Show
| | HP:0001337 | Tremor | "An unintentional, oscillating to-and-fro muscle movement." [HPO:curators] |
Show
| | HP:0004923 | hyperphenylalaninemia | |
Show
| | HP:0008297 | Transient hyperphenylalaninemia | |
Show
|
Interacting proteins (from Reactome)
| ENSG00000166228 | PCBD1 / P61457 / pterin-4 alpha-carbinolamine dehydratase 1 | / complex |
0 s.
|
