MLYCD Gene: Malonyl-CoA Decarboxylase
Key regulator of fatty acid metabolism and mitochondrial function
Gene Information Card
| Symbol | MLYCD |
|---|---|
| Full Name | Malonyl-CoA Decarboxylase |
| Gene Type | Protein coding |
| Chromosomal Location | 16q23.3 |
| NCBI Gene ID | 23417 ncbi.nlm.nih.gov/gene/23417 |
| Ensembl ID | ENSG00000103150 |
| UniProt ID | O95822 |
| OMIM ID | 606761 |
| HGNC ID | 7157 |
| Aliases | MCD, MCD1, DKFZp686D10126 |
Description
The MLYCD gene encodes malonyl-CoA decarboxylase, a mitochondrial enzyme that catalyzes the conversion of malonyl-CoA to acetyl-CoA and CO2. This reaction regulates fatty acid oxidation by controlling malonyl-CoA levels, which inhibit carnitine palmitoyltransferase I (CPT1). MLYCD is essential for energy homeostasis and is implicated in metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Malonyl-CoA decarboxylase deficiency | Loss-of-function mutations reduce enzyme activity, leading to accumulation of malonyl-CoA and impaired fatty acid oxidation, causing metabolic acidosis, cardiomyopathy, and developmental delay. | ClinVar, OMIM |
| Cardiomyopathy | Dysregulation of fatty acid oxidation due to MLYCD deficiency contributes to cardiac energy deficit and hypertrophic cardiomyopathy. | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Heart | 9.8 | Medium |
| Skeletal Muscle | 8.3 | Medium |
| Kidney | 7.1 | Low |
| Brain | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.3 | Hepatocyte cell line |
| K-562 | 6.7 | Myelogenous leukemia line |
| HeLa | 5.4 | Cervical carcinoma line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.838C>T (p.Arg280*) | Nonsense | Rare | Premature stop, loss of function |
| c.1039G>A (p.Gly347Arg) | Missense | Rare | Impaired enzyme activity |
Mutation functional classification
Loss of Function (LOF)
Most MLYCD mutations are loss-of-function, reducing or abolishing malonyl-CoA decarboxylase activity, leading to substrate accumulation and metabolic imbalance.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • malonyl-CoA decarboxylase activity | • fatty acid beta-oxidation |
| • mitochondrion | • coenzyme A binding |
| • decarboxylase activity |
Pathways
• Fatty acid degradation
• Propanoate metabolism
• Metabolic pathways
Protein Summary
Malonyl-CoA decarboxylase is a 493-amino acid mitochondrial enzyme that homodimerizes to catalyze the decarboxylation of malonyl-CoA. It plays a critical role in regulating fatty acid oxidation by modulating malonyl-CoA levels, which inhibit CPT1. Deficiency leads to metabolic acidosis, hypoglycemia, and cardiomyopathy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MLYCD Knockout HEK293 Cell Line | EDJ-KQ1875 | Human | 23417 | Details Get a Quote |
| MLYCD Knockout HCT 116 Cell Line | EDJ-KQ20454 | Human | 23417 | Details Get a Quote |
| MLYCD Knockout A-549 Cell Line | EDJ-KQ21755 | Human | 23417 | Details Get a Quote |
| MLYCD Knockout HeLa Cell Line | EDJ-KQ21757 | Human | 23417 | Details Get a Quote |
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