TMC6

TMC6
Identifiers
Aliases TMC6, EV1, EVER1, EVIN1, LAK-4P, transmembrane channel like 6
External IDs MGI: 1098686 HomoloGene: 5258 GeneCards: TMC6
Orthologs
Species Human Mouse
Entrez

11322

217353

Ensembl

ENSG00000141524

ENSMUSG00000025572

UniProt

Q7Z403

Q7TN60

RefSeq (mRNA)

NM_001127198
NM_007267
NM_001321185

NM_145439
NM_181321

RefSeq (protein)

NP_001120670.1
NP_009198.4
NP_001308114.1

NP_663414.3
NP_851838.1

Location (UCSC) Chr 17: 78.11 – 78.13 Mb Chr 11: 117.77 – 117.78 Mb
PubMed search [1] [2]
Wikidata
View/Edit HumanView/Edit Mouse

Transmembrane channel-like protein 6 is a protein that in humans is encoded by the TMC6 gene.[3][4] 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.[5]

Inactivating mutations in TMC6 or TMC8 have been implicated as the genetic cause of the rare skin disorder epidermodysplasia verruciformis,[5] 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.

References

  1. "Human PubMed Reference:".
  2. "Mouse PubMed Reference:".
  3. Ramoz N, Rueda LA, Bouadjar B, Montoya LS, Orth G, Favre M (Nov 2002). "Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis". Nat Genet. 32 (4): 579–81. doi:10.1038/ng1044. PMID 12426567.
  4. "Entrez Gene: TMC6 transmembrane channel-like 6".
  5. 1 2 Lazarczyk, M; C Pons; JA Mendoza; P Cassonnet; Y Jacob; M Favre (2008-01-21). "Regulation of cellular zinc balance as a potential mechanism of EVER-mediated protection against pathogenesis by cutaneous oncogenic human papillomaviruses". The Journal of Experimental Medicine. 205 (1): 35–42. doi:10.1084/jem.20071311. PMC 2234378Freely accessible. PMID 18158319.

Further reading


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