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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MCAT
malonyl-CoA-acyl carrier protein transacylase
Chromosome 22 · 22q13.2
NCBI Gene: 27349Ensembl: ENSG00000100294.14HGNC: HGNC:29622UniProt: Q8IVS2
47PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
[acyl-carrier-protein] S-malonyltransferase activitymitochondrionRNA bindingmitochondrial small ribosomal subunit assemblyneurodegenerative diseaseoptic atrophy 15Autosomal recessive isolated optic atrophyprostate carcinoma
✦AI Summary

MCAT (malonyl-CoA-acyl carrier protein transacylase) is a mitochondrial enzyme that catalyzes the transfer of malonyl moieties from malonyl-CoA to the phosphopantetheine arm of mitochondrial acyl carrier protein (NDUFAB1), suggesting a role in mitochondrial fatty acid biosynthesis 12. Beyond its metabolic function, MCAT also serves as a mitochondrial small ribosomal subunit assembly factor, indicating dual roles in both metabolism and ribosome biogenesis 3. The enzyme is localized to the mitochondrial matrix and participates in fatty acid biosynthetic processes as well as fatty acid beta-oxidation pathways. MCAT is associated with optic atrophy 15, though the specific disease mechanisms remain unclear from the available literature. The gene is located on chromosome 22 and its protein product contains RNA binding capabilities and RNA folding chaperone activity. While the provided abstracts discuss various uses of the MCAT acronym in other contexts (dental procedures, medical education, transcription factors), these are unrelated to the mitochondrial transacylase gene function.

Sources cited
1
MCAT catalyzes transfer of malonyl moiety from malonyl-CoA to mitochondrial ACP protein
PMID: 12882974
2
MCAT catalyzes transfer of malonyl moiety from malonyl-CoA to mitochondrial ACP protein
PMID: 19549604
3
MCAT acts as a mitochondrial small ribosomal subunit assembly factor
PMID: 36482135
⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ21
neurodegenerative diseaseOpen Targets
0.53Moderate
optic atrophy 15Open Targets
0.42Moderate
Autosomal recessive isolated optic atrophyOpen Targets
0.37Weak
prostate carcinomaOpen Targets
0.23Weak
hereditary optic neuropathyOpen Targets
0.18Weak
Retinal dystrophyOpen Targets
0.17Weak
pulmonary arterial hypertensionOpen Targets
0.12Weak
neoplasmOpen Targets
0.12Weak
Pallister-Hall syndromeOpen Targets
0.12Weak
hepatocellular carcinomaOpen Targets
0.11Weak
colorectal carcinomaOpen Targets
0.11Weak
cancerOpen Targets
0.11Weak
triple-negative breast cancerOpen Targets
0.10Weak
Alzheimer diseaseOpen Targets
0.10Weak
squamous cell carcinomaOpen Targets
0.10Weak
breast cancerOpen Targets
0.10Weak
Miyoshi myopathyOpen Targets
0.10Suggestive
acute myeloid leukemiaOpen Targets
0.10Suggestive
Chédiak-Higashi syndromeOpen Targets
0.09Suggestive
glioblastoma multiformeOpen Targets
0.09Suggestive
Optic atrophy 15UniProt
Pathogenic Variants2
NM_173467.5(MCAT):c.424-2A>GPathogenic
Optic atrophy 15|Acute myeloid leukemia
☆☆☆☆2023
NM_173467.5(MCAT):c.823G>A (p.Glu275Lys)Pathogenic
Optic atrophy 15
☆☆☆☆2023→ Residue 275
View on ClinVar ↗
Related Genes
NDUFAB1Protein interaction100%HSD17B8Protein interaction100%MRPS6Protein interaction100%MRPS9Protein interaction100%MRPS16Protein interaction100%MRPS11Protein interaction100%
Tissue Expression6 tissues
Liver
100%
Heart
58%
Ovary
53%
Brain
50%
Bone Marrow
49%
Lung
43%
Gene Interaction Network
Click a node to explore
MCATNDUFAB1HSD17B8MRPS6MRPS9MRPS16MRPS11
PROTEIN STRUCTURE
Preparing viewer…
PDB2C2N · 1.55 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.57LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.10 [0.79–1.57]
RankingsWhere MCAT stands among ~20K protein-coding genes
  • #9,236of 20,598
    Most Researched47
  • #4,446of 5,498
    Most Pathogenic Variants2
  • #15,520of 17,882
    Most Constrained (LOEUF)1.57
Genes detectedMCAT
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Decision Tree for the Treatment of Multiple Gingival Recession Defects When Utilizing MCAT or MCAF Based on Evidence and Clinical Experience.
PMID: 39241220
Int J Periodontics Restorative Dent · 2025
1.00
2
Oxidative stress induces mitochondrial iron overload and ferroptotic cell death.
PMID: 37726294
Sci Rep · 2023
0.90
3
Treatment of multiple adjacent Miller class I and II gingival recessions with a Modified Coronally Advanced Tunnel (MCAT) technique and a collagen matrix or palatal connective tissue graft: a randomized, controlled clinical trial.
PMID: 23627374
J Clin Periodontol · 2013
0.80
4
MCAT elements and the TEF-1 family of transcription factors in muscle development and disease.
PMID: 17962623
Arterioscler Thromb Vasc Biol · 2008
0.70
5
Mitochondrial antioxidants abate SARS-COV-2 pathology in mice.
PMID: 39008677
Proc Natl Acad Sci U S A · 2024
0.60