POC1B, Official Symbol POC1Bprovided by HGNC Official Full Name POC1 centriolar protein Bprovided by HGNC Primary source HGNC:HGNC:30836 See related Ensembl:ENSG00000139323 MIM:614784; AllianceGenome:HGNC:30836 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 PIX1; CORD20; TUWD12; WDR51B 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] Expression Ubiquitous expression in colon (RPKM 7.2), small intestine (RPKM 5.7) and 25 other tissues See more Orthologs mouse all