Gene Symbol | POC1B |
Entrez Gene ID | 282809 |
Full Name | POC1 centriolar protein B |
Synonyms | CORD20,PIX1,TUWD12,WDR51B |
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. Mutation in this gene result in autosomal-recessive cone-rod dystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]. |
Disorder MIM: | |
Disorder Html: | Cone-rod dystrophy 20, 615973 (3) |