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DLST dihydrolipoamide S-succinyltransferase

Gene ID: 1743, updated on 11-Apr-2024
Gene type: protein coding
Also known as: DLTS; KGD2; PGL7; PPGL7

Summary

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]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Paragangliomas 7
MedGen: C5193116OMIM: 618475GeneReviews: Not available
See labs
Prognostic implications of genetic variants in advanced non-small cell lung cancer: a genome-wide association study.
GeneReviews: Not available

Genomic context

Location:
14q24.3
Sequence:
Chromosome: 14; NC_000014.9 (74881916..74903743)
Total number of exons:
15

Links

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