TMC6
Sign in to saveAlso known as EV1, EVER1, EVIN1, LAK-4P, transmembrane channel like 6, TNRC6C-AS1, lnc
Transmembrane channel-like protein 6 is a protein that in humans is encoded by the TMC6 gene. In vivo, TMC6 and its homolog TMC8, interact and form a complex with the zinc transporter 1 (SLC30A1) and localize mostly to the endoplasmic reticulum, but also to the nuclear membrane and Golgi apparatus.
Gene data
TMC6- Name
- transmembrane channel like 6
- Type
- protein-coding
- Position
- 78,107,397–78,132,579 (−)
- Aliases
- EV1, EVER1, EVIN1, LAK-4P, TNRC6C-AS1, lnc
- Ensembl
- ENSG00000141524
- RefSeq RNA
- NM_001127198.5, NM_001321185.1, NM_001374593.1, NM_001374594.1, NM_001374596.1
- RefSeq protein
- NP_001120670.1, NP_001308114.1, NP_001361522.1, NP_001361523.1, NP_001361525.1
Epidermodysplasia verruciformis (EV) is an autosomal recessive dermatosis characterized by abnormal susceptibility to human papillomaviruses (HPVs) and a high rate of progression to squamous cell carcinoma on sun-exposed skin. EV is caused by mutations in either of two adjacent genes located on chromosome 17q25.3. Both of these genes encode integral membrane proteins that localize to the endoplasmic reticulum and are predicted to form transmembrane channels. This gene encodes a transmembrane channel-like protein with 10 transmembrane domains and 2 leucine zipper motifs. [provided by RefSeq, Jul 2008].
Gene Ontology
Biological process
Molecular function
via MyGene.info
Gene · Ensembl
transmembrane channel like 6
- Symbol
- TMC6
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 17:78,107,397-78,132,579
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 9 more facts
- HomoloGene ID
- 5258
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/11322
- genomic end
- 76128488
- genomic start
- 78107397
- expressed in
- appendix
- chromosome
- human chromosome 17
- cytogenetic location
- 17q25.3
- genetic association
- epidermodysplasia verruciformis
via Wikidata · CC0
~1 min read
Encyclopedic overview
2 sectionsContents
- References
- Further reading
Transmembrane channel-like protein 6 is a protein that in humans is encoded by the TMC6 gene. In vivo, TMC6 and its homolog TMC8, interact and form a complex with the zinc transporter 1 (SLC30A1) and localize mostly to the endoplasmic reticulum, but also to the nuclear membrane and Golgi apparatus.
Inactivating mutations in TMC6 or TMC8 have been implicated as the genetic cause of the rare skin disorder epidermodysplasia verruciformis, which is characterized by abnormal susceptibility to human papillomaviruses (HPVs) of the skin resulting in the growth of scaly macules and papules, particularly on the hands and feet.
Excerpted from Wikipedia’s “TMC6” article, available under the CC BY-SA 4.0 licence.