SDHAF3
Succinate Dehydrogenase Complex Assembly Factor 3
Gene Information Card
| Symbol | SDHAF3 |
|---|---|
| Full Name | Succinate Dehydrogenase Complex Assembly Factor 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q21.3 |
| NCBI Gene ID | 54967 ncbi.nlm.nih.gov/gene/54967 |
| Ensembl ID | ENSG00000106384 |
| UniProt ID | Q9BTR8 |
| OMIM ID | 615100 |
| HGNC ID | 25996 |
| Aliases | SDH5, SDHA3, C7orf63 |
Description
SDHAF3 (succinate dehydrogenase complex assembly factor 3) is a mitochondrial protein essential for the proper assembly and function of succinate dehydrogenase (SDH, complex II) in the electron transport chain. It facilitates the incorporation of the flavin adenine dinucleotide (FAD) cofactor into the SDHA subunit. Mutations in SDHAF3 are associated with hereditary paraganglioma-pheochromocytoma syndrome and mitochondrial complex II deficiency.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Paraganglioma-pheochromocytoma syndrome | Loss-of-function mutations impair SDH assembly, leading to pseudohypoxia and tumorigenesis | OMIM #615100 |
| Mitochondrial complex II deficiency | Defective SDH assembly reduces respiratory chain activity | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.3 | Medium |
| Skeletal muscle | 8.7 | Medium |
| Liver | 5.1 | Low |
| Kidney | 6.4 | Low |
| Brain | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 9.8 | Moderate expression |
| HeLa | 7.5 | Moderate expression |
| HepG2 | 6.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2T>C (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.118C>T (p.Arg40*) | Nonsense | Rare | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported SDHAF3 mutations are loss-of-function, leading to SDH deficiency and pseudohypoxic signaling.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrion (GO:0005739) | • succinate dehydrogenase (ubiquinone) activity (GO:0008177) |
| • enzyme regulator activity (GO:0030234) | • mitochondrial respiratory chain complex II assembly (GO:0061615) |
Pathways
• KEGG: Citrate cycle (TCA cycle)
• KEGG: Oxidative phosphorylation
• Reactome: Respiratory electron transport
Protein Summary
SDHAF3 is a small mitochondrial protein (approx. 12 kDa) that acts as a chaperone for SDHA flavination. It binds to the SDHA subunit and promotes FAD incorporation, which is critical for SDH enzymatic activity. Without SDHAF3, SDHA is unstable and complex II fails to assemble, leading to metabolic dysfunction.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SDHAF3 Knockout HEK293 Cell Line | EDJ-KQ15207 | Human | 57001 | Details Get a Quote |
| SDHAF3 Knockout A-549 Cell Line | EDJ-KQ45853 | Human | 57001 | Details Get a Quote |
| SDHAF3 Knockout HCT 116 Cell Line | EDJ-KQ45854 | Human | 57001 | Details Get a Quote |
| SDHAF3 Knockout HeLa Cell Line | EDJ-KQ48038 | Human | 57001 | Details Get a Quote |
