GPD2 Chromosome 2
Glycerol-3-phosphate dehydrogenase 2
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What This Gene Does
The protein encoded by this gene localizes to the inner mitochondrial membrane and catalyzes the conversion of glycerol-3-phosphate to dihydroxyacetone phosphate, using FAD as a cofactor. Along with GDP1, the encoded protein constitutes the glycerol phosphate shuttle, which reoxidizes NADH formed during glycolysis. Two transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Jan 2010]
Gene Info
Gene Group
"EF-hand domain containing|Flavoproteins"
Locus Type
gene with protein product
Location
2q24.1
Ensembl
ENSG00000115159
Associated Conditions (1)
Type 2 diabetes mellitus
Key Variants
RS142821701
Conflicting classifications of pathogenicity
Type 2 diabetes mellitus, Type 2 diabetes mellitus
Health Risk
RS145747966
Conflicting classifications of pathogenicity
Type 2 diabetes mellitus, Type 2 diabetes mellitus
Health Risk
RS759884526
Conflicting classifications of pathogenicity
Health Risk
RS121918407
Pathogenic
Type 2 diabetes mellitus, Type 2 diabetes mellitus
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS142821701 | Health Risk | Conflicting classifications of pathogenicity | Type 2 diabetes mellitus, Type 2 diabetes mellitus |
| RS145747966 | Health Risk | Conflicting classifications of pathogenicity | Type 2 diabetes mellitus, Type 2 diabetes mellitus |
| RS759884526 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS121918407 | Health Risk | Pathogenic | Type 2 diabetes mellitus, Type 2 diabetes mellitus |