Transmembrane channel-like protein 8 is a protein which in humans is encoded by the TMC8 gene.[5][6]

TMC8
Identifiers
AliasesTMC8, EV2, EVER2, EVIN2, transmembrane channel like 8
External IDsOMIM: 605829; MGI: 2669037; HomoloGene: 45126; GeneCards: TMC8; OMA:TMC8 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_152468

NM_001195088
NM_001195089
NM_001195090
NM_181856

RefSeq (protein)

NP_689681

NP_001182017
NP_001182018
NP_001182019
NP_862904

Location (UCSC)Chr 17: 78.13 – 78.14 MbChr 11: 117.67 – 117.68 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.[6]

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.[6]

References

edit
  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000167895Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000050106Ensembl, 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 (December 2002). "Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis" (PDF). Nature Genetics. 32 (4): 579–81. doi:10.1038/ng1044. PMID 12426567. S2CID 20013445.[permanent dead link]
  6. ^ 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.