TMEM67

Transmembrane protein 67
Identifiers
Symbols	TMEM67 ; JBTS6; MECKELIN; MKS3; NPHP11; TNEM67
External IDs	OMIM: 609884 MGI: 1923928 HomoloGene: 71886 GeneCards: TMEM67 Gene
Gene ontology Molecular function • protein binding • filamin binding • unfolded protein binding Cellular component • endoplasmic reticulum membrane • centrosome • integral component of membrane • cytoplasmic vesicle membrane • TCTN-B9D complex • ciliary membrane Biological process • organelle organization • negative regulation of centrosome duplication • ER-associated ubiquitin-dependent protein catabolic process • cilium assembly • cilium morphogenesis Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	91147	329795
Ensembl	ENSG00000164953	ENSMUSG00000049488
UniProt	Q5HYA8	Q8BR76
RefSeq (mRNA)	NM_001142301	NM_177861
RefSeq (protein)	NP_001135773	NP_808529
Location (UCSC)	Chr 8: 93.75 – 93.82 Mb	Chr 4: 12.04 – 12.09 Mb
PubMed search	[1]	[2]

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

Function

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.

Clinical significance

Defects in this gene are a cause of Meckel syndrome type 3 (MKS3), nephronophthisis and Joubert syndrome type 6 (JBTS6).

See also

• Meckel syndrome