TMC8

From Wikipedia, the free encyclopedia
Jump to: navigation, search
TMC8
Identifiers
Aliases TMC8, EV2, EVER2, EVIN2, transmembrane channel like 8
External IDs MGI: 2669037 HomoloGene: 45126 GeneCards: TMC8
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_152468

NM_001195088
NM_001195089
NM_001195090
NM_181856

RefSeq (protein)

NP_689681

Location (UCSC) Chr 17: 78.13 – 78.14 Mb Chr 11: 117.78 – 117.79 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Transmembrane channel-like 8 is a protein which in humans is encoded by the TMC8 gene.[3][4]

Function[edit]

The protein encoded by this gene is an integral membrane protein that localize to the endoplasmic reticulum and is predicted to form transmembrane channels. This gene encodes a transmembrane channel-like protein with 8 predicted transmembrane domains and 3 leucine zipper motifs.[4]

Clinical significance[edit]

Mutations in the TMC8 gene are associated with epidermodysplasia verruciformis (EV), an autosomal recessive dermatosis characterized by abnormal susceptibility to human papillomaviruses (HPVs) and a high rate of progression to squamous cell carcinoma on sun-exposed skin.[4]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ Ramoz N, Rueda LA, Bouadjar B, Montoya LS, Orth G, Favre M (December 2002). "Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis". Nature Genetics. 32 (4): 579–81. doi:10.1038/ng1044. PMID 12426567. 
  4. ^ a b c "Entrez Gene: TMC8 transmembrane channel-like 8". 

Further reading[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.