SUCLG1
Succinate-CoA Ligase GDP/ADP-Forming Subunit Alpha
Gene Information Card
| Symbol | SUCLG1 |
|---|---|
| Full Name | Succinate-CoA Ligase GDP/ADP-Forming Subunit Alpha |
| Gene Type | Protein coding |
| Chromosomal Location | 2p11.2 |
| NCBI Gene ID | 8802 ncbi.nlm.nih.gov/gene/8802 |
| Ensembl ID | ENSG00000163586 |
| UniProt ID | P53597 |
| OMIM ID | 611224 |
| HGNC ID | 11449 |
| Aliases | SUCLG1, SUCLA1, SUCLG, MTDPS9 |
Description
SUCLG1 encodes the alpha subunit of the heterodimeric enzyme succinate-CoA ligase (also known as succinyl-CoA synthetase), which catalyzes the conversion of succinyl-CoA to succinate in the tricarboxylic acid (TCA) cycle, coupled with substrate-level phosphorylation of GDP or ADP to GTP or ATP. The enzyme is composed of an alpha subunit (SUCLG1) and a beta subunit (SUCLA2 or SUCLG2). Mutations in SUCLG1 cause mitochondrial DNA depletion syndrome 9 (MTDPS9), characterized by encephalomyopathy, hypotonia, and lactic acidosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial DNA depletion syndrome 9 (MTDPS9) | Loss-of-function mutations impair succinyl-CoA ligase activity, leading to mitochondrial DNA depletion and defective oxidative phosphorylation. | ClinVar, OMIM |
| Encephalomyopathy with lactic acidosis | Impaired TCA cycle and mitochondrial dysfunction due to SUCLG1 deficiency. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Heart | 15.3 | Medium |
| Brain | 8.9 | Low |
| Skeletal Muscle | 10.2 | Medium |
| Kidney | 11.8 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.1 | Cervical carcinoma cell line |
| HEK293 | 13.5 | Embryonic kidney cells |
| HepG2 | 12.0 | Hepatocellular carcinoma |
| SH-SY5Y | 9.8 | Neuroblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.533A>G (p.Asp178Gly) | Missense | Rare | Loss of enzyme activity, associated with MTDPS9 |
| c.1A>G (p.Met1?) | Start loss | Rare | Complete loss of protein, severe phenotype |
| c.754C>T (p.Arg252*) | Nonsense | Rare | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most SUCLG1 mutations result in loss of enzyme function, leading to mitochondrial DNA depletion.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative effects described; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • Succinate-CoA ligase (GDP-forming) activity | • Succinate-CoA ligase (ADP-forming) activity |
| • ATP binding | • GTP binding |
| • Mitochondrial matrix | • Tricarboxylic acid cycle |
Pathways
• Tricarboxylic acid cycle (KEGG: hsa00020)
• Metabolic pathways (KEGG: hsa01100)
Protein Summary
The SUCLG1 protein is the alpha subunit of succinyl-CoA synthetase, a mitochondrial enzyme that catalyzes the reversible conversion of succinyl-CoA to succinate, producing GTP or ATP. The alpha subunit contains the active site for CoA binding and substrate phosphorylation. Defects in SUCLG1 disrupt the TCA cycle and lead to mitochondrial DNA depletion, causing severe neurological and muscular symptoms.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SUCLG1 Knockout HEK293 Cell Line | EDJ-KQ233 | Human | 8802 | Details Get a Quote |
| SUCLG1 Knockout A-549 Cell Line | EDJ-KQ30376 | Human | 8802 | Details Get a Quote |
| SUCLG1 Knockout HCT 116 Cell Line | EDJ-KQ30377 | Human | 8802 | Details Get a Quote |
| SUCLG1 Knockout HeLa Cell Line | EDJ-KQ30378 | Human | 8802 | Details Get a Quote |
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