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POC1A

Official Full Name
POC1 centriolar protein A
Organism
Homo sapiens
GeneID
25886
Background
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]
Synonyms
PIX2; SOFT; WDR51A;

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