TMC6

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Transmembrane channel-like 6
Identifiers
Symbols TMC6 ; EV1; EVER1; EVIN1; LAK-4P
External IDs OMIM605828 MGI1098686 HomoloGene5258 GeneCards: TMC6 Gene
Orthologs
Species Human Mouse
Entrez 11322 217353
Ensembl ENSG00000141524 ENSMUSG00000025572
UniProt Q7Z403 Q7TN60
RefSeq (mRNA) NM_001127198 NM_145439
RefSeq (protein) NP_001120670 NP_663414
Location (UCSC) Chr 17:
76.11 – 76.13 Mb
Chr 11:
117.77 – 117.78 Mb
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.

References[edit]

  1. ^ 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. 
  2. ^ "Entrez Gene: TMC6 transmembrane channel-like 6". 
  3. ^ 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. Retrieved 2008-09-19. 

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