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SDHA succinate dehydrogenase complex flavoprotein subunit A

Gene ID: 6389, updated on 5-Jan-2022
Gene type: protein coding
Also known as: FP; PGL5; SDH1; SDH2; SDHF; CMD1GG; MC2DN1; NDAXOA

Summary

This gene encodes a major catalytic subunit of succinate-ubiquinone oxidoreductase, a complex of the mitochondrial respiratory chain. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. Mutations in this gene have been associated with a form of mitochondrial respiratory chain deficiency known as Leigh Syndrome. A pseudogene has been identified on chromosome 3q29. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]

Genomic context

Location:
5p15.33
Sequence:
Chromosome: 5; NC_000005.10 (218309..264816)
Total number of exons:
15

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