Gene Symbol | POC1A |
Entrez Gene ID | 25886 |
Full Name | POC1 centriolar protein A |
Synonyms | PIX2,SOFT,WDR51A |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | POC1 proteins contain an N-terminal WD40 domain and a C-terminal coiled coil domain and are part of centrosomes. They play an important role in basal body and cilia formation. This gene encodes one of the two POC1 proteins found in humans. Mutations in this gene result in short stature, onychodysplasia, facial dysmorphism, and hypotrichosis (SOFT) syndrome. [provided by RefSeq, Sep 2012]. |
Disorder MIM: | |
Disorder Html: | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813 (3) |