Aliases for POC1A Gene
External Ids for POC1A Gene
Previous HGNC Symbols for POC1A Gene
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]
GeneCards Summary for POC1A Gene
POC1A (POC1 Centriolar Protein A) is a Protein Coding gene. Diseases associated with POC1A include Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis and Isolated Growth Hormone Deficiency, Type Ia. An important paralog of this gene is POC1B.
UniProtKB/Swiss-Prot Summary for POC1A Gene
Plays an important role in centriole assembly and/or stability and ciliogenesis. Involved in early steps of centriole duplication, as well as in the later steps of centriole length control. Acts in concert with POC1B to ensure centriole integrity and proper mitotic spindle formation.