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Immunogen sequence: LFSLSQHINW VRCAKFSPDG RLIVSASDDK TVKLWDKSSR ECVHSYCEHG GFVTYVDFHP SGTCIAAAGM DNTVKVWDVR THRLLQHYQL HSAAVNGLSF HPSGNYLITA SSDSTLKILD LMEGRLLYTL HGHQGPATTV AFSRTGEYFA SGGSDEQVMV WKSNFDIVDH GEVTKVPRPP ATLASSMGNL PEVDFPVPPG RGRSVESVQS QPQEPVSVPQ TLTSTLEHIV GQLDVLTQTV SILEQRLTLT EDKLKQCLEN QQLIMQRATP
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.
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Protein Aliases: Pix2; POC1 centriolar protein homolog A; Proteome of centriole protein 1A; WD repeat domain 51A; WD repeat-containing protein 51A
Gene Aliases: 2510040D07Rik; PIX2; POC1A; RGD1565004; SOFT; WDR51A
UniProt ID: (Human) Q8NBT0, (Mouse) Q8JZX3
Entrez Gene ID: (Human) 25886, (Mouse) 70235, (Rat) 501048
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