靶标:
POC1A
产品别名:
PIX2; SOFT; WDR51A; POC1A; POC1 centriolar protein A; POC1 centriolar protein A; POC1 centriolar protein homolog A; WD repeat domain 51A; WD repeat-containing protein 51A; proteome of centriole protein 1A;
背景信息:
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.