POC1A, Official Symbol POC1Aprovided by HGNC Official Full Name POC1 centriolar protein Aprovided by HGNC Primary source HGNC:HGNC:24488 See related Ensembl:ENSG00000164087 MIM:614783; AllianceGenome:HGNC:24488 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PIX2; SOFT; WDR51A 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] Expression Broad expression in testis (RPKM 5.0), bone marrow (RPKM 2.2) and 21 other tissues See more Orthologs mouse all