MLYCD

Chr 16AR

malonyl-CoA decarboxylase

Also known as: MCD

The product of this gene catalyzes the breakdown of malonyl-CoA to acetyl-CoA and carbon dioxide. Malonyl-CoA is an intermediate in fatty acid biosynthesis, and also inhibits the transport of fatty acyl CoAs into mitochondria. Consequently, the encoded protein acts to increase the rate of fatty acid oxidation. It is found in mitochondria, peroxisomes, and the cytoplasm. Mutations in this gene result in malonyl-CoA decarboyxlase deficiency. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…
LOFmechanismARLOEUF 0.841 OMIM phenotype
Clinical SummaryMLYCD
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Gene-Disease Validity (ClinGen)
malonic aciduria · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.84LOEUF
pLI 0.001
Z-score 2.06
OE 0.46 (0.270.84)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-1.76Z-score
OE missense 1.31 (1.201.44)
330 obs / 251.5 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.46 (0.270.84)
00.351.4
Missense OE?1.31 (1.201.44)
00.61.4
Synonymous OE?1.46
01.21.6
LoF obs/exp: 8 / 17.3Missense obs/exp: 330 / 251.5Syn Z: -3.92
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
definitiveMLYCD-related malonyl-CoA decarboxylase deficiencyLOFAR

This gene — mechanism propensity

Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.

DN
0.6453th %ile
GOF
0.5072th %ile
LOF
0.2483th %ile

The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

MLYCD · 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.

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