TMEM67

Also known as JBTS6, MECKELIN, MKS3, NPHP11, TNEM67, transmembrane protein 67

Meckelin is a protein that in humans is encoded by the TMEM67 gene.

Gene data

TMEM67

Name: transmembrane protein 67
Type: protein-coding
Position: 93,754,844–93,819,234 (+)
Aliases: JBTS6, MECKELIN, MKS3, NPHP11, TNEM67
Ensembl: ENSG00000164953
RefSeq RNA: NM_001142301.1, NM_153704.6, NR_024522.2, XM_006716686.5, XM_011517363.4
RefSeq protein: NP_001135773.1, NP_714915.3, XP_006716749.1, XP_011515665.1, XP_047278365.1

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].