MCAT

Chr 22AR

malonyl-CoA-acyl carrier protein transacylase

NCBI Gene: 27349ENSG00000100294UniProt: Q8IVS2

Catalyzes the transfer of a malonyl moiety from malonyl-CoA to the free thiol group of the phosphopantetheine arm of the mitochondrial ACP protein (NDUFAB1) (PubMed:12882974, PubMed:19549604). This suggests the existence of the biosynthesis of fatty acids in mitochondria (PubMed:12882974). Also acts as a mitochondrial small ribosomal subunit (mt-SSU) assembly factor (PubMed:36482135)

Primary Disease Associations & Inheritance

Optic atrophy 15MIM #620583
AR
122
ClinVar variants
25
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— MCAT
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
25 Pathogenic / Likely Pathogenic· 57 VUS of 122 total submissions
Some data sources returned errors (1)

epmc: Error: EPMC HTTP 502

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.16LOEUF
pLI 0.000
Z-score 1.19
OE 0.62 (0.35–1.16)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.29Z-score
OE missense 0.94 (0.84–1.06)
202 obs / 214.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.62 (0.35–1.16)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.94 (0.84–1.06)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.10
0≤1.21.6
LoF obs/exp: 7 / 11.3Missense obs/exp: 202 / 214.0Syn Z: -0.77

ClinVar Variant Classifications

122 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic25
VUS57
Likely Benign9
Benign4
25
Pathogenic
57
VUS
9
Likely Benign
4
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
1
2
22
0
25
Likely Pathogenic
0
0
0
0
0
VUS
1
50
6
0
57
Likely Benign
0
6
1
2
9
Benign
0
2
1
1
4
Total26030395

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

MCAT · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

Optic atrophy 15

MIM #620583

Molecular basis of disorder known

Autosomal recessive
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Decision Tree for the Treatment of Multiple Gingival Recession Defects When Utilizing MCAT or MCAF Based on Evidence and Clinical Experience.
Aroca S et al.·Int J Periodontics Restorative Dent
2025
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.
Aroca S et al.·J Clin Periodontol
2013
Mitochondrial antioxidants abate SARS-COV-2 pathology in mice.
Guarnieri JW et al.·Proc Natl Acad Sci U S A
2024
Development of critical thinking skills in human anatomy and physiology.
Silldorff EP et al.·Adv Physiol Educ
2023
A Learning Theory Approach to Attachment Theory: Exploring Clinical Applications.
Bosmans G et al.·Clin Child Fam Psychol Rev
2022Review
Why great students rarely make it to medical school: the antithesis between medical admissions and intellectual excellence.
Lujan HL et al.·Adv Physiol Educ
2025
Recessive MECR pathogenic variants cause an LHON-like optic neuropathy.
Fiorini C et al.·J Med Genet
2023
The Modified Coronally Advanced Tunnel Technique for Coverage of Mucosal Recessions at Dental Implants.
Sculean A et al.·J Esthet Restor Dent
2025
Autosomal recessive Leber hereditary optic neuropathy, a new neuro-ophthalmo-genetic paradigm.
Lenaers G et al.·Brain
2023
Mitochondrial-Targeted Catalase: Extended Longevity and the Roles in Various Disease Models.
Dai DF et al.·Prog Mol Biol Transl Sci
2017Review
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools