TMC8

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Transmembrane channel-like 8
Identifiers
Symbols TMC8 ; EV2; EVER2; EVIN2
External IDs OMIM605829 MGI2669037 HomoloGene45126 GeneCards: TMC8 Gene
Orthologs
Species Human Mouse
Entrez 147138 217356
Ensembl ENSG00000167895 ENSMUSG00000050106
UniProt Q8IU68 Q7TN58
RefSeq (mRNA) NM_152468 NM_001195088
RefSeq (protein) NP_689681 NP_001182017
Location (UCSC) Chr 17:
76.13 – 76.14 Mb
Chr 11:
117.78 – 117.79 Mb
PubMed search [1] [2]

Transmembrane channel-like 8 is a protein which in humans is encoded by the TMC8 gene.[1][2]

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.[2]

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.[2]

References[edit]

  1. ^ 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. 
  2. ^ 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.