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

Gene: TMC8

Alternate names for this Gene: EV2|EVER2|EVIN2

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 8 predicted transmembrane domains and 3 leucine zipper motifs.

Gene is located in Chromosome: 17

Location in Chromosome : 17q25.3

Description of this Gene: transmembrane channel like 8

Type of Gene: protein-coding

rs2748424 in TMC6;TMC8 gene and Finding of Mean Corpuscular Hemoglobin PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs2748424 in TMC6;TMC8 gene and Mean Corpuscular Volume (result) PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs2748424 in TMC6;TMC8 gene and Red Blood Cell Count measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs2748424 in TMC6;TMC8 gene and Reticulocyte count (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.