TMC6

Also 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
Aliases: EV1, EVER1, EVIN1, LAK-4P, TNRC6C-AS1, lnc

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].

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

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via Ensembl · EMBL-EBI

Wikidata facts

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HomoloGene ID: 5258
exact match: identifiers.org/ncbigene/11322
genomic end: 76128488
genomic start: 78107397
cytogenetic location: 17q25.3

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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.