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Immunogen sequence: MTTAASEVP SFLVERMANV RRRRQDRRGM EGGILKSRIV TWEPSEEFVR NNHVINTPLQ TMHIMADLGP YKKLGYKKYE HVLCTLKVDS NGVITVKPDF TGLKGPYRIE TEGEKQELWK YTIDNVSPHA QPEEEERERR VFKDLYGRHK EYLSSLVGTD FEMTVPGALR LFVNGEVVSA QGYEYDNLYV HFFVELPTAH WSSPAFQQLS GVTQTCTTKS LAMDKVAHFS YPFTFEAFFL HEDESSDALP EWPVLYCEVL SLDFWQRYRV EGYGAVVLPA TPGSHTLTVS TWRPVELGTV AELRRFFIGG SLELEDLSYV RI (1-321 aa encoded by BC010061)
The protein encoded by this gene localizes to the basal body and is required for formation of the primary cilium in ciliated epithelial cells. Mutations in this gene result in Meckel syndrome type 1 and in Bardet-Biedl syndrome type 13. Multiple transcript variants encoding different isoforms have been found for this gene.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Meckel syndrome type 1 protein; Meckel syndrome type 1 protein homolog; Meckel syndrome, type 1; POC12 centriolar protein homolog; Tectonic-like complex member MKS1
基因别名: BBS13; MES; MKS; MKS1; POC12
UniProt ID: (Human) Q9NXB0, (Rat) Q499Q5
Entrez Gene ID: (Human) 54903, (Pig) 100514538, (Rat) 287612