TMC6

Transmembrane channel-like protein 6 is a protein that in humans is encoded by the TMC6 gene.[5][6] 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.[7]

TMC6
Identifiers
AliasesTMC6, EV1, EVER1, EVIN1, LAK-4P, transmembrane channel like 6, TNRC6C-AS1, lnc
External IDsOMIM: 605828 MGI: 1098686 HomoloGene: 5258 GeneCards: TMC6
Orthologs
SpeciesHumanMouse
Entrez

11322

217353

Ensembl

ENSG00000141524

ENSMUSG00000025572

UniProt

Q7Z403

Q7TN60

RefSeq (mRNA)

NM_145439
NM_181321

RefSeq (protein)

NP_663414

Location (UCSC)Chr 17: 78.11 – 78.13 MbChr 11: 117.66 – 117.67 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Inactivating mutations in TMC6 or TMC8 have been implicated as the genetic cause of the rare skin disorder epidermodysplasia verruciformis,[7] 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. GRCh38: Ensembl release 89: ENSG00000141524 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000025572 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 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. S2CID 20013445.
  6. "Entrez Gene: TMC6 transmembrane channel-like 6".
  7. 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 2234378. PMID 18158319.

Further reading



This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.