Gene: TMC6

Alternate names for this Gene: EV1|EVER1|EVIN1|LAK-4P|TNRC6C-AS1|lnc

Gene Summary: 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.

Gene is located in Chromosome: 17

Location in Chromosome : 17q25.3

Description of this Gene: transmembrane channel like 6

Type of Gene: protein-coding

rs1567989416 in TMC6 gene and Epidermodysplasia Verruciformis PMID 17139267 2007 Novel homozygous frameshift mutation of EVER1 gene in an epidermodysplasia verruciformis patient.

PMID 15042430 2004 Novel mutations of EVER1/TMC6 gene in a Japanese patient with epidermodysplasia verruciformis.

rs2748427 in TMC6 gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2748427 in TMC6 gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs3794738 in TMC6 gene and Reticulocyte count (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.