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5 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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SDHAF3
succinate dehydrogenase complex assembly factor 3
Chromosome 7 · 7q21.3
NCBI Gene: 57001Ensembl: ENSG00000196636.8HGNC: HGNC:21752UniProt: Q9NRP4
24PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mitochondrionregulation of gluconeogenesismitochondrial respiratory chain complex II assemblymitochondrial matrixAbnormality of the skeletal systemalcohol drinkinginjurysystemic inflammatory response syndrome
✦AI Summary

SDHAF3 (succinate dehydrogenase complex assembly factor 3) is an essential mitochondrial protein that mediates maturation of the iron-sulfur cluster subunit SDHB of succinate dehydrogenase (SDH/respiratory complex II) 1. SDHAF3 functions as a LYR factor that acts together with SDHAF1 to promote SDHB maturation by binding to the Sdh1/Sdh2 intermediate and protecting it from oxidative damage 1. The protein directly interacts with SDHB, with residue 242 being critical for this interaction 2. SDH couples succinate oxidation to fumarate with ubiquinone reduction in both the tricarboxylic acid cycle and mitochondrial electron transport chain. SDHAF3 dysfunction is clinically significant in neuroendocrine tumors. A variant (c.157 T > C, p.Phe53Leu) shows increased prevalence in familial and sporadic pheochromocytoma/paraganglioma (PC/PGL) patients (6.6% vs. 1.2% in normal populations) and exhibits impaired SDHB interaction 2. This variant is hypomorphic, reducing SDH assembly capacity 2. SDHAF3 mutations have been identified in vagal paraganglioma cases, often co-occurring with other SDH gene variants 3. Drosophila lacking SDHAF3 show reduced SDH activity, hypersensitivity to oxidative stress, and muscular/neuronal dysfunction 1. SDHAF3 expression varies tissue-specifically, with particular significance in metabolically active tissues 4.

Sources cited
1
SDHAF3 (Sdh7) mediates SDHB maturation by protecting iron-sulfur clusters from oxidative damage; SDHAF3 loss impairs SDH activity and causes oxidative stress sensitivity and neuronal dysfunction
PMID: 24954417
2
SDHAF3 c.157 T > C variant is enriched in PC/PGL (6.6% vs 1.2% in controls) and shows impaired interaction with SDHB residue 242, reducing SDH assembly capacity
PMID: 28738844
3
SDHAF3 pathogenic variants identified in vagal paraganglioma cases alongside other SDH complex mutations
PMID: 32948195
4
SDHAF3 shows tissue-specific differential expression patterns in metabolically active tissues including kidney, heart, brain, and ovary
PMID: 39425877
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.43Moderate
alcohol drinkingOpen Targets
0.34Weak
injuryOpen Targets
0.30Weak
systemic inflammatory response syndromeOpen Targets
0.12Weak
central nervous system cancerOpen Targets
0.11Weak
inherited hemoglobinopathyOpen Targets
0.11Weak
Alzheimer diseaseOpen Targets
0.09Suggestive
Gorham-Stout diseaseOpen Targets
0.07Suggestive
gram-positive bacterial infectionsOpen Targets
0.06Suggestive
pachyonychia congenitaOpen Targets
0.04Suggestive
ParagangliomaOpen Targets
0.04Suggestive
tooth diseaseOpen Targets
0.03Suggestive
protozoa infectious diseaseOpen Targets
0.03Suggestive
hidradenitisOpen Targets
0.03Suggestive
pheochromocytomaOpen Targets
0.03Suggestive
retinal vascular disorderOpen Targets
0.02Suggestive
ShockOpen Targets
0.02Suggestive
placenta praeviaOpen Targets
0.02Suggestive
bacteriemiaOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ZNF692Shared pathway100%SDHDProtein interaction100%SDHAF1Protein interaction100%SDHAProtein interaction95%SDHBProtein interaction95%SDHAF2Protein interaction95%
Tissue Expression6 tissues
Heart
100%
Liver
78%
Brain
77%
Bone Marrow
57%
Lung
35%
Ovary
30%
Gene Interaction Network
Click a node to explore
SDHAF3ZNF692SDHDSDHAF1SDHASDHBSDHAF2
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9NRP4
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.85LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.35 [0.93–1.85]
RankingsWhere SDHAF3 stands among ~20K protein-coding genes
  • #13,293of 20,598
    Most Researched24
  • #16,879of 17,882
    Most Constrained (LOEUF)1.85
Genes detectedSDHAF3
Sources retrieved5 papers
Response time—
📄 Sources
5
1
Analysis of SDHAF3 in familial and sporadic pheochromocytoma and paraganglioma.
PMID: 28738844
BMC Cancer · 2017
1.00
2
Differential expression of nuclear-derived mitochondrial succinate dehydrogenase genes in metabolically active buffalo tissues.
PMID: 39425877
Mol Biol Rep · 2024
0.80
3
The LYR factors SDHAF1 and SDHAF3 mediate maturation of the iron-sulfur subunit of succinate dehydrogenase.
PMID: 24954417
Cell Metab · 2014
0.60
4
Mutation profiling in eight cases of vagal paragangliomas.
PMID: 32948195
BMC Med Genomics · 2020
0.40
5
A Novel MAX Gene Mutation Variant in a Patient With Multiple and "Composite" Neuroendocrine-Neuroblastic Tumors.
PMID: 32508744
Front Endocrinol (Lausanne) · 2020
0.20