SDHAF4
Succinate Dehydrogenase Complex Assembly Factor 4
Gene Information Card
| Symbol | SDHAF4 |
|---|---|
| Full Name | Succinate Dehydrogenase Complex Assembly Factor 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q16.1 |
| NCBI Gene ID | 155066 ncbi.nlm.nih.gov/gene/155066 |
| Ensembl ID | ENSG00000111817 |
| UniProt ID | Q9H6R3 |
| OMIM ID | 616917 |
| HGNC ID | 28236 |
| Aliases | SDH6, SDHAF4, C6orf57 |
Description
SDHAF4 (succinate dehydrogenase complex assembly factor 4) is a nuclear-encoded mitochondrial protein required for the proper assembly and function of succinate dehydrogenase (SDH, complex II) in the electron transport chain. It facilitates the incorporation of the FAD cofactor into the SDHA subunit. Loss-of-function mutations impair SDH activity and are associated with mitochondrial encephalopathy and hereditary paraganglioma.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex II deficiency | Impaired SDH assembly due to SDHAF4 mutations reduces ATP production and causes oxidative stress | PMID: 25262651 |
| Hereditary paraganglioma-pheochromocytoma syndrome | SDHAF4 loss leads to succinate accumulation and HIF1α stabilization, promoting tumorigenesis | PMID: 28983065 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.3 | Medium |
| Skeletal Muscle | 9.8 | Medium |
| Liver | 6.5 | Low |
| Kidney | 7.2 | Low |
| Brain | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 8.4 | Moderate expression |
| HeLa | 6.9 | Low expression |
| HepG2 | 7.5 | 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, no protein |
| c.187C>T (p.Arg63Trp) | Missense | Rare | Impaired SDHA binding, reduced complex II activity |
Mutation functional classification
Loss of Function (LOF)
Most reported SDHAF4 mutations are loss-of-function, leading to SDH deficiency.
Gain of Function (GOF)
None reported.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrion (GO:0005739) | • succinate dehydrogenase (ubiquinone) activity (GO:0008177) |
| • mitochondrial respiratory chain complex II assembly (GO:0033615) |
Pathways
• KEGG: hsa00190 (Oxidative phosphorylation)
• Reactome: R-HSA-611105 (Respiratory electron transport)
Protein Summary
SDHAF4 is a 17 kDa mitochondrial matrix protein that acts as a chaperone for SDHA flavination. It binds to the SDHA subunit and promotes covalent attachment of FAD, which is essential for succinate dehydrogenase activity. Without SDHAF4, SDH complex II is unstable and catalytically inactive.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SDHAF4 Knockout HEK293 Cell Line | EDJ-KQ9357 | Human | 135154 | Details Get a Quote |
| SDHAF4 Knockout A-549 Cell Line | EDJ-KQ35999 | Human | 135154 | Details Get a Quote |
| SDHAF4 Knockout HCT 116 Cell Line | EDJ-KQ36000 | Human | 135154 | Details Get a Quote |
| SDHAF4 Knockout HeLa Cell Line | EDJ-KQ34742 | Human | 135154 | Details Get a Quote |
