TMEM67
Sign in to saveAlso 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].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
transmembrane protein 67
- Symbol
- TMEM67
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 8:93,754,840-93,819,234
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
Show 5 more facts
- HomoloGene ID
- 71886
- exact match
- identifiers.org/ncbigene/91147
- genomic end
- 94831462
- genomic start
- 94767072
- cytogenetic location
- 8q22.1
via Wikidata · CC0
~1 min read
Article
5 sectionsContents
- Function
- Clinical significance
- See also
- References
- Further reading
Meckelin is a protein that in humans is encoded by the TMEM67 gene.
== Function ==