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The protein encoded by this gene localizes to the primary cilium and to the plasma membrane. The gene functions in centriole migration to the apical membrane and formation of the primary cilium. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Meckel syndrome type 3 (MKS3) and Joubert syndrome type 6 (JBTS6).
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 3 protein; Meckel syndrome type 3 protein homolog; Meckelin; Transmembrane protein 67
基因别名: 5330408M12Rik; B230117O07; b2b1163.1Clo; b2b1291.1Clo; JBTS6; MECKELIN; MKS3; NPHP11; TMEM67; TNEM67
UniProt ID: (Human) Q5HYA8, (Mouse) Q8BR76
Entrez Gene ID: (Human) 91147, (Mouse) 329795