MCAT (Malonyl-CoA Acyl Carrier Protein Transacylase)
Mitochondrial fatty acid synthesis gene involved in lipoic acid biosynthesis and metabolic disorders
Gene Information Card
| Symbol | MCAT |
|---|---|
| Full Name | Malonyl-CoA Acyl Carrier Protein Transacylase |
| Gene Type | Protein coding |
| Chromosomal Location | 22q13.2 |
| NCBI Gene ID | 27349 ncbi.nlm.nih.gov/gene/27349 |
| Ensembl ID | ENSG00000100294 |
| UniProt ID | Q8IVS2 |
| OMIM ID | 614478 |
| HGNC ID | 24267 |
| Aliases | FASN2A, MCT, MCT1, MCT2 |
Description
The MCAT gene encodes malonyl-CoA acyl carrier protein transacylase, a mitochondrial enzyme that catalyzes the transfer of malonyl-CoA to the acyl carrier protein (ACP) during mitochondrial fatty acid synthesis (mtFAS). This pathway is essential for the biosynthesis of lipoic acid, a cofactor for key mitochondrial enzyme complexes such as pyruvate dehydrogenase and alpha-ketoglutarate dehydrogenase. MCAT is critical for mitochondrial function and energy metabolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined oxidative phosphorylation deficiency 25 (COXPD25) | Loss-of-function mutations in MCAT impair mtFAS and lipoic acid synthesis, leading to mitochondrial dysfunction and multi-system disorder. | ClinVar, OMIM |
| Mitochondrial encephalopathy | Deficient lipoic acid affects pyruvate dehydrogenase and respiratory chain complexes, causing neurological symptoms. | OMIM |
| Cardiomyopathy | Mitochondrial energy failure due to impaired mtFAS contributes to cardiac muscle dysfunction. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Liver | 10.3 | Medium |
| Skeletal Muscle | 9.8 | Medium |
| Kidney | 8.1 | Medium |
| Brain | 6.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 11.2 | Hepatocellular carcinoma cell line |
| K562 | 7.5 | Leukemia cell line |
| HeLa | 6.9 | Cervical adenocarcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.152T>C (p.Leu51Pro) | Missense | Rare | Impaired enzyme activity, associated with COXPD25 |
| c.464G>A (p.Arg155His) | Missense | Rare | Reduced catalytic efficiency |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Leu51Pro, p.Arg155His) reduce or abolish transacylase activity, impairing mtFAS and lipoic acid synthesis.
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • 3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315) | • [acyl-carrier-protein] S-malonyltransferase activity (GO:0004314) |
| • mitochondrion (GO:0005739) | • fatty acid biosynthetic process (GO:0006633) |
| • coenzyme A biosynthetic process (GO:0009109) | • protein lipoylation (GO:0009249) |
Pathways
• Mitochondrial fatty acid elongation (mtFAS)
• Lipoic acid metabolism
• Pyruvate dehydrogenase complex (PDC) cofactor biosynthesis
• Alpha-ketoglutarate dehydrogenase complex (KGDHC) cofactor biosynthesis
Protein Summary
The MCAT protein (UniProt Q8IVS2) is a 338-amino acid mitochondrial enzyme that catalyzes the transfer of malonyl-CoA to the acyl carrier protein (ACP), initiating the elongation cycle of mitochondrial fatty acid synthesis. This pathway provides octanoyl-ACP, which is essential for lipoic acid biosynthesis. Lipoic acid is a cofactor for multiple mitochondrial multienzyme complexes, including pyruvate dehydrogenase, alpha-ketoglutarate dehydrogenase, and branched-chain alpha-keto acid dehydrogenase. MCAT deficiency leads to combined oxidative phosphorylation deficiency and multi-organ disease.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MCAT Knockout HEK293 Cell Line | EDJ-KQ8773 | Human | 27349 | Details Get a Quote |
| MCAT Knockout A-549 Cell Line | EDJ-KQ35044 | Human | 27349 | Details Get a Quote |
| MCAT Knockout HeLa Cell Line | EDJ-KQ35045 | Human | 27349 | Details Get a Quote |
| MCAT Knockout HCT 116 Cell Line | EDJ-KQ33789 | Human | 27349 | Details Get a Quote |
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