Skip to content
GenoLensGenoLens

SDHA

Chr 5p15.33

succinate dehydrogenase complex flavoprotein subunit A

Aliases:
FP, SDHF
MANE:
ENST00000264932.11

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Adult solid tumours cancer susceptibility

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Adult solid tumours for rare disease

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Inherited phaeochromocytoma and paraganglioma

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Inherited phaeochromocytoma and paraganglioma excluding NF1

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Inherited predisposition to GIST

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Inherited white matter disorders

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal

+19 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

  • mitochondrial complex II deficiency, nuclear type 1

    0.81
  • pheochromocytoma/paraganglioma syndrome 5

    0.79
  • dilated cardiomyopathy 1GG

    0.77
  • neurodegeneration with ataxia and late-onset optic atrophy

    0.76
  • gastrointestinal stromal tumor

    0.74
  • Leigh syndrome

    0.73
  • hereditary pheochromocytoma-paraganglioma

    0.72
  • familial isolated dilated cardiomyopathy

    0.65
  • hereditary neoplastic syndrome

    0.57
  • Inherited cancer-predisposing syndrome

    0.57

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial

Flavoprotein (FP) subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q) (PubMed:10746566, PubMed:24781757). SDH also oxidizes malate to the non-canonical enol form of oxaloacetate, enol-oxaloacetate (By similarity). Enol-oxaloacetate, which is a potent inhibitor of the succinate dehydrogenase activity, is further isomerized into keto-oxaloacetate (By similarity). Can act as a tumor suppressor (PubMed:20484225)

Curated MONDO disease pages that list SDHA among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.