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

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