MCAT

Chr 22AR

malonyl-CoA-acyl carrier protein transacylase

Also known as: FASN2C, MCT, MCT1, MT, NET62, OPA15, fabD

The protein encoded by this gene is found exclusively in the mitochondrion, where it catalyzes the transfer of a malonyl group from malonyl-CoA to the mitochondrial acyl carrier protein. The encoded protein may be part of a fatty acid synthase complex that is more like the type II prokaryotic and plastid complexes rather than the type I human cytosolic complex. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2012]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Optic atrophy 15MIM #620583
AR

Clinical highlights

Gene-disease validity (ClinGen)
optic atrophy 15 · ARLimitednot for standalone diagnostic reporting
0
Active trials
97
Pubs (1 yr)
P/LP submissions
P/LP missense
1.16
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.16LOEUF
pLI 0.000
Z-score 1.19
OE 0.62 (0.351.16)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.29Z-score
OE missense 0.94 (0.841.06)
202 obs / 214.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.62 (0.351.16)
00.351.4
Missense OE?0.94 (0.841.06)
00.61.4
Synonymous OE?1.10
01.21.6
LoF obs/exp: 7 / 11.3Missense obs/exp: 202 / 214.0Syn Z: -0.77

ClinVar Variant Classifications

0 submitted variants 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.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →