SUGCT Gene (Succinyl-CoA:Glutarate-CoA Transferase)
Role in Glutaric Aciduria Type 3 and Mitochondrial Metabolism
Gene Information Card
| Symbol | SUGCT |
|---|---|
| Full Name | Succinyl-CoA:Glutarate-CoA Transferase |
| Gene Type | Protein coding |
| Chromosomal Location | 7p14.1 |
| NCBI Gene ID | 79783 ncbi.nlm.nih.gov/gene/79783 |
| Ensembl ID | ENSG00000106384 |
| UniProt ID | Q9HAC7 |
| OMIM ID | 609187 |
| HGNC ID | 1601 |
| Aliases | C7orf10, GA3, MGC14140 |
Description
The SUGCT gene encodes succinyl-CoA:glutarate-CoA transferase, a mitochondrial enzyme involved in the metabolism of glutarate. It catalyzes the reversible transfer of CoA from succinyl-CoA to glutarate, forming glutaryl-CoA and succinate. This enzyme plays a key role in the degradation of lysine, hydroxylysine, and tryptophan. Mutations in SUGCT cause glutaric aciduria type 3 (GA3), a rare autosomal recessive disorder characterized by elevated urinary glutaric acid.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Glutaric Aciduria Type 3 (GA3) | Loss-of-function mutations in SUGCT impair glutaryl-CoA formation, leading to accumulation of glutaric acid and its excretion in urine. | ClinVar, OMIM |
| Glutaric Aciduria Type 1 (differential diagnosis) | Not directly caused by SUGCT; GA3 is biochemically distinct from GA1 (GCDH deficiency). | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Heart | 6.1 | Low |
| Brain | 4.2 | Low |
| Skeletal Muscle | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.1 | Hepatocellular carcinoma cell line |
| HEK293 | 7.5 | Embryonic kidney cells |
| K562 | 4.3 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1040G>A (p.Arg347Gln) | Missense | Rare | Reduced enzyme activity; associated with GA3 |
| c.124C>T (p.Arg42*) | Nonsense | Rare | Premature stop; loss of function |
| c.1A>G (p.Met1?) | Start loss | Rare | No protein production |
Mutation functional classification
Loss of Function (LOF)
Most SUGCT mutations are loss-of-function, leading to glutaric aciduria type 3.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • succinyl-CoA:glutarate-CoA transferase activity | • mitochondrion |
| • glutarate metabolic process | • CoA transferase activity |
Pathways
• Lysine degradation
• Tryptophan metabolism
• Mitochondrial fatty acid metabolism
Protein Summary
SUGCT is a 46 kDa mitochondrial protein that functions as a CoA transferase. It is essential for the conversion of glutarate to glutaryl-CoA, a critical step in the catabolism of several amino acids. The enzyme is homodimeric and requires no cofactors. Deficiency leads to glutaric aciduria type 3, a benign condition with no neurological symptoms, unlike GA1.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SUGCT Knockout HEK293 Cell Line | EDJ-KQ15558 | Human | 79783 | Details Get a Quote |
| SUGCT Knockout HCT 116 Cell Line | EDJ-KQ45182 | Human | 79783 | Details Get a Quote |
| SUGCT Knockout A-549 Cell Line | EDJ-KQ46413 | Human | 79783 | Details Get a Quote |
| SUGCT Knockout HeLa Cell Line | EDJ-KQ46414 | Human | 79783 | Details Get a Quote |
