TMC6

  (Redirected from EVER1)

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
Gene location (Human)
Chromosome 17 (human)
Chr.Chromosome 17 (human)[1]
Chromosome 17 (human)
Genomic location for TMC6
Genomic location for TMC6
Band17q25.3Start78,110,458 bp[1]
End78,132,407 bp[1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_145439
NM_181321

RefSeq (protein)

NP_663414

Location (UCSC)Chr 17: 78.11 – 78.13 MbChr 11: 117.77 – 117.78 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.

ReferencesEdit

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000141524 - Ensembl, May 2017
  2. ^ a b c 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.
  6. ^ "Entrez Gene: TMC6 transmembrane channel-like 6".
  7. ^ a b 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 readingEdit