Gene: MTHFR

Alternate names for this Gene: -

Gene Summary: The protein encoded by this gene catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Genetic variation in this gene influences susceptibility to occlusive vascular disease, neural tube defects, colon cancer and acute leukemia, and mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency.

Gene is located in Chromosome: 1

Location in Chromosome : 1p36.22

Description of this Gene: methylenetetrahydrofolate reductase

Type of Gene: protein-coding

Gene: CLCN6

Alternate names for this Gene: CLC-6

Gene Summary: This gene encodes a member of the voltage-dependent chloride channel protein family. Members of this family can function as either chloride channels or antiporters. This protein is primarily localized to late endosomes and functions as a chloride/proton antiporter. Alternate splicing results in both coding and non-coding variants. Additional alternately spliced variants have been described but their full-length structure is unknown.

Gene is located in Chromosome: 1

Location in Chromosome : 1p36.22

Description of this Gene: chloride voltage-gated channel 6

Type of Gene: protein-coding

rs13306561 in MTHFR;CLCN6 gene and Alcohol consumption PMID 29912962 2018 Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.

rs3753584 in MTHFR;CLCN6 gene and Diastolic blood pressure PMID 29912962 2018 Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.

rs3753584 in MTHFR;CLCN6 gene and Diastolic blood pressure measurement PMID 29912962 2018 Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.

rs13306561 in MTHFR;CLCN6 gene and Folic acid measurement, RBC PMID 30339177 2018 The 677C→T variant of MTHFR is the major genetic modifier of biomarkers of folate status in a young, healthy Irish population.

rs3753584 in MTHFR;CLCN6 gene and Mean blood pressure PMID 29912962 2018 Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.

rs3753584 in MTHFR;CLCN6 gene and Systolic Pressure PMID 29912962 2018 Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.

rs3753584 in MTHFR;CLCN6 gene and Systolic blood pressure measurement PMID 29912962 2018 Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.