LDHD Chromosome 16
Lactate dehydrogenase D
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What This Gene Does
The protein encoded by this gene belongs to the D-isomer specific 2-hydroxyacid dehydrogenase family. The similar protein in yeast has both D-lactate and D-glycerate dehydrogenase activities. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Flavoproteins|D-lactate dehydrogenase family"
Locus Type
gene with protein product
Location
16q23.1
Ensembl
ENSG00000166816
Associated Conditions (2)
Lactic aciduria due to D-lactic acid
Abnormal circulating lactate dehydrogenase concentration
Key Variants
RS1567502487
Likely pathogenic
Lactic aciduria due to D-lactic acid, Abnormal circulating lactate dehydrogenase concentration, Lactic aciduria due to D-lactic acid
Health Risk
RS764877688
Likely pathogenic
Abnormal circulating lactate dehydrogenase concentration, Lactic aciduria due to D-lactic acid, Abnormal circulating lactate dehydrogenase concentration
Health Risk
RS2036459233
Pathogenic
Lactic aciduria due to D-lactic acid, Lactic aciduria due to D-lactic acid
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1567502487 | Health Risk | Likely pathogenic | Lactic aciduria due to D-lactic acid, Abnormal circulating lactate dehydrogenase concentration, Lactic aciduria due to D-lactic acid |
| RS764877688 | Health Risk | Likely pathogenic | Abnormal circulating lactate dehydrogenase concentration, Lactic aciduria due to D-lactic acid, Abnormal circulating lactate dehydrogenase concentration |
| RS2036459233 | Health Risk | Pathogenic | Lactic aciduria due to D-lactic acid, Lactic aciduria due to D-lactic acid |