SUCLA2
Succinate-CoA Ligase ADP-Forming Subunit Beta
Gene Information Card
| Symbol | SUCLA2 |
|---|---|
| Full Name | Succinate-CoA Ligase ADP-Forming Subunit Beta |
| Gene Type | Protein coding |
| Chromosomal Location | 13q14.2 |
| NCBI Gene ID | 8803 ncbi.nlm.nih.gov/gene/8803 |
| Ensembl ID | ENSG00000136143 |
| UniProt ID | Q9P2R7 |
| OMIM ID | 603921 |
| HGNC ID | 11448 |
| Aliases | SUCLA2, A-SCS, MTDPS5 |
Description
The SUCLA2 gene encodes the beta subunit of succinate-CoA ligase (ADP-forming), a mitochondrial enzyme that catalyzes the conversion of succinyl-CoA to succinate in the tricarboxylic acid (TCA) cycle, coupled with substrate-level phosphorylation of ADP to ATP. Mutations in SUCLA2 cause mitochondrial DNA depletion syndrome 5 (MTDPS5), characterized by encephalomyopathy, hypotonia, and hearing loss.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial DNA depletion syndrome 5 (MTDPS5) | Loss-of-function mutations impair succinyl-CoA ligase activity, leading to mitochondrial DNA depletion and energy deficiency in muscle and brain | ClinVar, OMIM |
| Encephalomyopathy with hearing loss | Defective ATP production in the TCA cycle disrupts cellular energy homeostasis, particularly in high-energy-demand tissues | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal Muscle | 18.5 | High |
| Heart | 15.2 | High |
| Brain | 10.1 | Medium |
| Liver | 6.3 | Medium |
| Kidney | 5.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 12.4 | Cervical cancer cell line |
| HEK293 | 9.7 | Embryonic kidney cells |
| SH-SY5Y | 8.3 | Neuroblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.534+1G>A | Splice site | Rare | Loss of function; associated with MTDPS5 |
| c.850C>T (p.Arg284Trp) | Missense | Rare | Reduced enzyme activity; pathogenic in ClinVar |
| c.1045C>T (p.Arg349*) | Nonsense | Rare | Premature truncation; loss of function |
Mutation functional classification
Loss of Function (LOF)
Most SUCLA2 mutations are loss-of-function, reducing or abolishing succinyl-CoA ligase activity, leading to mitochondrial DNA depletion.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • succinate-CoA ligase (ADP-forming) activity (GO:0004775) | • tricarboxylic acid cycle (GO:0006099) |
| • mitochondrion (GO:0005739) | • ATP binding (GO:0005524) |
| • metabolic process (GO:0008152) |
Pathways
• TCA cycle (KEGG: hsa00020)
• Metabolic pathways (KEGG: hsa01100)
• Succinyl-CoA metabolism (Reactome: R-HSA-71403)
Protein Summary
The SUCLA2 protein is the beta subunit of the ADP-forming succinyl-CoA synthetase (SCS-A) complex. It catalyzes the reversible conversion of succinyl-CoA to succinate, generating ATP from ADP and inorganic phosphate. The enzyme is essential for mitochondrial energy metabolism and is highly expressed in tissues with high ATP demand, such as muscle and brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SUCLA2 Knockout HEK293 Cell Line | EDJ-KQ235 | Human | 8803 | Details Get a Quote |
| SUCLA2 Knockout A-549 Cell Line | EDJ-KQ30350 | Human | 8803 | Details Get a Quote |
| SUCLA2 Knockout HCT 116 Cell Line | EDJ-KQ30351 | Human | 8803 | Details Get a Quote |
| SUCLA2 Knockout HeLa Cell Line | EDJ-KQ30352 | Human | 8803 | Details Get a Quote |
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