DLST Chromosome 14
Dihydrolipoamide S-succinyltransferase
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What This Gene Does
This gene encodes a mitochondrial protein that belongs to the 2-oxoacid dehydrogenase family. This protein is one of the three components (the E2 component) of the 2-oxoglutarate dehydrogenase complex that catalyzes the overall conversion of 2-oxoglutarate to succinyl-CoA and CO(2). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2011]
Gene Info
Gene Group
"Oxoglutarate dehydrogenase complex subunits|Oxoadipate dehydrogenase complex subunits"
Locus Type
gene with protein product
Location
14q24.3
Ensembl
ENSG00000119689
Associated Conditions (1)
Acute myeloid leukemia
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200530358 | Health Risk | Conflicting classifications of pathogenicity | Acute myeloid leukemia, Acute myeloid leukemia |
| RS201278080 | Health Risk | Conflicting classifications of pathogenicity | — |