TMC6

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TMC6
Identifiers
Aliases TMC6, EV1, EVER1, EVIN1, LAK-4P, transmembrane channel like 6
External IDs 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
Band 17q25.3 Start 78,110,458 bp[1]
End 78,132,407 bp[1]
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001127198
NM_007267
NM_001321185

NM_145439
NM_181321

RefSeq (protein)

NP_001120670
NP_001308114
NP_009198

NP_663414
NP_851838

Location (UCSC) Chr 17: 78.11 – 78.13 Mb Chr 17: 117.77 – 117.78 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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]

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[edit]

  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:". 
  4. ^ "Mouse PubMed Reference:". 
  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. PMID 12426567. doi:10.1038/ng1044. 
  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. PMC 2234378Freely accessible. PMID 18158319. doi:10.1084/jem.20071311. 

Further reading[edit]