TMC6

Epidermodysplasia verruciformis (EV) is 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. EV is caused by mutations in either of two adjacent genes located on chromosome 17q25.3. Both of these genes encode integral membrane proteins that localize to the endoplasmic reticulum and are predicted to form transmembrane channels. This gene encodes a transmembrane channel-like protein with 10 transmembrane domains and 2 leucine zipper motifs. [provided by RefSeq, Jul 2008]

Description

Transmembrane channel like 6

Tissue specificity

Tissue enhanced (lymphoid tissue)

Predicted location

Intracellular, Membrane

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)
Transporters

Chromosome

17 (78107397 - 78132407)

Ensembl ID

ENSG00000141524  (ver. 103.38)

Orthologs

Mouse Tmc6: ENSMUSG00000025572

UniProt

Q7Z403

neXtProt

NX_Q7Z403

Human splice variants
Mouse splice variants

Protein structure