Transmembrane channel-like 6 | |||||||||
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Identifiers | |||||||||
Symbols | TMC6; EV1; EVER1; EVIN1; LAK-4P | ||||||||
External IDs | OMIM: 605828 MGI: 1098686 HomoloGene: 5258 GeneCards: TMC6 Gene | ||||||||
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Orthologs | |||||||||
Species | Human | Mouse | |||||||
Entrez | 11322 | 217353 | |||||||
Ensembl | ENSG00000141524 | ENSMUSG00000025572 | |||||||
UniProt | Q7Z403 | Q7TN60 | |||||||
RefSeq (mRNA) | NM_001127198.1 | NM_145439.2 | |||||||
RefSeq (protein) | NP_001120670.1 | NP_663414.3 | |||||||
Location (UCSC) | Chr 17: 76.11 – 76.13 Mb |
Chr 11: 117.63 – 117.64 Mb |
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PubMed search | [1] | [2] | |||||||
Transmembrane channel-like protein 6 is a protein that in humans is encoded by the TMC6 gene.[1][2] 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.[3]
Inactivating mutations in TMC6 or TMC8 have been implicated as the genetic cause of the rare skin disorder epidermodysplasia verruciformis[3], 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.
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