MLYCD
Chr 16ARmalonyl-CoA decarboxylase
Also known as: MCD
The protein catalyzes the conversion of malonyl-CoA to acetyl-CoA, regulating fatty acid oxidation and the metabolic balance between glucose and lipid utilization in muscle. Mutations cause malonyl-CoA decarboxylase deficiency, an autosomal recessive disorder affecting fatty acid metabolism. The gene shows minimal constraint against loss-of-function variants (pLI 0.0006, LOEUF 0.837), consistent with the recessive inheritance pattern.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
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
436 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 31 | 3 | 23 | 0 | 57 |
Likely Pathogenic | 10 | 2 | 1 | 0 | 13 |
VUS | 1 | 100 | 7 | 0 | 108 |
Likely Benign | 0 | 6 | 43 | 194 | 243 |
Benign | 0 | 1 | 3 | 4 | 8 |
Conflicting | — | 1 | |||
| Total | 42 | 112 | 77 | 198 | 430 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View 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.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools