TMEM67( Human )

Entrez Gene 91147 Entrez Gene 91147
transmembrane protein 67

Alias

JBTS6|MECKELIN|MKS3|NPHP11|TNEM67

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). [provided by RefSeq, Nov 2008].

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