Gene Symbol | TMEM67 |
Entrez Gene ID | 91147 |
Full Name | transmembrane protein 67 |
Synonyms | JBTS6,MECKELIN,MKS3,NPHP11,TNEM67 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Meckel syndrome 3, 607361 (3); Joubert syndrome 6, 610688 (3); {Bardet-Biedl syndrome 14, modifier of}, 615991 (3); COACH syndrome, 216360 (3); Nephronophthisis 11, 613550 (3) |