SDHAF1
Succinate Dehydrogenase Complex Assembly Factor 1
Gene Information Card
| Symbol | SDHAF1 |
|---|---|
| Full Name | Succinate Dehydrogenase Complex Assembly Factor 1 |
| Gene Type | Protein-coding |
| Chromosomal Location | 19q13.12 |
| NCBI Gene ID | 644096 ncbi.nlm.nih.gov/gene/644096 |
| Ensembl ID | ENSG00000204991 |
| UniProt ID | Q6NUI1 |
| OMIM ID | 612848 |
| HGNC ID | 33834 |
| Aliases | SDH5, SDHAF1, C19orf56 |
Description
SDHAF1 (succinate dehydrogenase complex assembly factor 1) encodes a mitochondrial protein essential for the assembly and flavination of succinate dehydrogenase (SDH, complex II). SDHAF1 facilitates the covalent attachment of FAD to the SDHA subunit, a critical step for SDH enzymatic activity. Loss-of-function mutations in SDHAF1 impair complex II assembly, leading to mitochondrial dysfunction and metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex II deficiency (MC2DN) | SDHAF1 mutations disrupt SDH assembly, reducing complex II activity and ATP production | OMIM #252011 |
| Leukodystrophy with brainstem and spinal cord involvement and lactate elevation (LBSL) | SDHAF1 deficiency impairs mitochondrial respiration in neural tissues, causing white matter degeneration | ClinVar, PMID: 19763152 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 8.2 | Medium |
| Heart | 6.5 | Medium |
| Brain | 4.1 | Low |
| Skeletal Muscle | 3.8 | Low |
| Kidney | 5.9 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 7.1 | Embryonic kidney cells |
| HeLa | 5.3 | Cervical cancer cells |
| HepG2 | 6.8 | Hepatocellular carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.169C>T (p.Arg57Ter) | Nonsense | Rare | Premature truncation, loss of function |
| c.170G>A (p.Arg57Gln) | Missense | Rare | Impaired SDHA flavination, reduced complex II activity |
| c.1A>G (p.Met1?) | Start loss | Rare | No protein translation |
Mutation functional classification
Loss of Function (LOF)
Most SDHAF1 mutations are loss-of-function, leading to SDH assembly defects and mitochondrial complex II deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative effects documented.
View complete mutation data：
Gene Ontology (GO)
Pathways
• KEGG: hsa00190 - Oxidative phosphorylation
• KEGG: hsa00020 - Citrate cycle (TCA cycle)
• Reactome: R-HSA-611105 - Respiratory electron transport
Protein Summary
SDHAF1 is a 12 kDa mitochondrial matrix protein that acts as a chaperone for SDHA flavination. It binds to the SDHA subunit and facilitates the covalent attachment of FAD, which is essential for succinate dehydrogenase activity. Without SDHAF1, SDH complex II cannot assemble properly, leading to impaired electron transport and energy production.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SDHAF1 Knockout HEK293 Cell Line | EDJ-KQ15206 | Human | 644096 | Details Get a Quote |
| SDHAF1 Knockout A-549 Cell Line | EDJ-KQ45850 | Human | 644096 | Details Get a Quote |
| SDHAF1 Knockout HCT 116 Cell Line | EDJ-KQ45851 | Human | 644096 | Details Get a Quote |
| SDHAF1 Knockout HeLa Cell Line | EDJ-KQ45852 | Human | 644096 | Details Get a Quote |
