GCAT (Glycine C-Acetyltransferase)
Gene encoding a mitochondrial enzyme involved in threonine and glycine metabolism
Gene Information Card
| Symbol | GCAT |
|---|---|
| Full Name | Glycine C-Acetyltransferase |
| Gene Type | Protein coding |
| Chromosomal Location | 22q13.1 |
| NCBI Gene ID | 23464 ncbi.nlm.nih.gov/gene/23464 |
| Ensembl ID | ENSG00000100116 |
| UniProt ID | O75600 |
| OMIM ID | 607422 |
| HGNC ID | 4188 |
| Aliases | KBL, 2-amino-3-ketobutyrate coenzyme A ligase |
Description
The GCAT gene encodes glycine C-acetyltransferase, a mitochondrial enzyme that catalyzes the conversion of 2-amino-3-ketobutyrate to glycine and acetyl-CoA. This enzyme is involved in threonine catabolism and glycine metabolism. Mutations in GCAT are associated with 2-amino-3-ketobutyrate-CoA ligase deficiency, a rare metabolic disorder.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| 2-Amino-3-ketobutyrate-CoA ligase deficiency | Loss-of-function mutations impair threonine catabolism, leading to accumulation of toxic metabolites | ClinVar, OMIM |
| Glycine encephalopathy (indirect) | Disruption of glycine metabolism may contribute to altered glycine levels | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Heart | 5.1 | Low |
| Brain | 3.2 | Low |
| Skeletal muscle | 2.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.1 | Hepatocyte cell line |
| HEK293 | 6.4 | Embryonic kidney cells |
| K562 | 4.8 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon, likely loss of function |
| c.200C>T (p.Pro67Leu) | Missense | <0.01% | Reduced enzyme activity |
| c.500G>A (p.Arg167Gln) | Missense | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Missense and nonsense mutations that reduce or abolish enzyme activity, leading to 2-amino-3-ketobutyrate-CoA ligase deficiency
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • Glycine C-acetyltransferase activity | • 2-amino-3-ketobutyrate-CoA ligase activity |
| • Mitochondrion | • Threonine catabolic process |
| • Glycine metabolic process |
Pathways
• Threonine degradation (KEGG: hsa00260)
• Glycine
• serine and threonine metabolism (KEGG: hsa00260)
Protein Summary
Glycine C-acetyltransferase (GCAT) is a 419-amino acid mitochondrial enzyme that catalyzes the conversion of 2-amino-3-ketobutyrate to glycine and acetyl-CoA. It is a homodimer and requires pyridoxal phosphate as a cofactor. The enzyme is critical for threonine catabolism and glycine homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GCAT Knockout HEK293 Cell Line | EDJ-KQ8020 | Human | 23464 | Details Get a Quote |
| GCAT Knockout A-549 Cell Line | EDJ-KQ33791 | Human | 23464 | Details Get a Quote |
| GCAT Knockout HCT 116 Cell Line | EDJ-KQ33792 | Human | 23464 | Details Get a Quote |
| GCAT Knockout HeLa Cell Line | EDJ-KQ33793 | Human | 23464 | Details Get a Quote |
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