MCCC1 Gene: Methylcrotonoyl-CoA Carboxylase Subunit 1
Genetic insights into MCCC1, a key enzyme in leucine metabolism, associated with 3-methylcrotonyl-CoA carboxylase deficiency.
Gene Information Card
| Symbol | MCCC1 |
|---|---|
| Full Name | Methylcrotonoyl-CoA carboxylase subunit 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q27.1 |
| NCBI Gene ID | 56922 ncbi.nlm.nih.gov/gene/56922 |
| Ensembl ID | ENSG00000178074 |
| UniProt ID | Q96RQ3 |
| OMIM ID | 609010 |
| HGNC ID | 6936 |
| Aliases | MCCA, MCCX |
Description
The MCCC1 gene encodes the alpha subunit of the mitochondrial enzyme 3-methylcrotonyl-CoA carboxylase (MCC), which catalyzes an essential step in the catabolism of leucine. This biotin-dependent enzyme converts 3-methylcrotonyl-CoA to 3-methylglutaconyl-CoA. Mutations in MCCC1 can lead to 3-methylcrotonyl-CoA carboxylase deficiency, an inborn error of metabolism with variable clinical presentation, ranging from asymptomatic to severe neurological symptoms.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| 3-Methylcrotonyl-CoA carboxylase deficiency | Loss-of-function mutations in MCCC1 reduce or abolish MCC enzyme activity, impairing leucine catabolism and leading to accumulation of toxic metabolites. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 20.1 | High |
| Kidney | 15.3 | Medium |
| Heart | 12.8 | Medium |
| Brain | 8.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 18.2 | Liver cancer cell line |
| A549 | 12.5 | Lung carcinoma |
| MCF7 | 9.8 | Breast cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1205G>A (p.Arg402His) | Missense | Rare | Reduced enzyme activity |
| c.1522C>T (p.Arg508Ter) | Nonsense | Rare | Truncated protein, loss of function |
| c.IVS10+1G>A | Splice site | Rare | Splicing defect, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most pathogenic MCCC1 mutations are loss-of-function, leading to reduced or absent MCC activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative effects documented; MCCC1 deficiency is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding | • Biotin binding |
| • Ligase activity | • Metal ion binding |
| • Mitochondrion | • Proton-transporting ATP synthase complex |
Pathways
• Leucine degradation
• Valine
• leucine and isoleucine degradation
• Metabolic pathways
Protein Summary
The MCCC1 protein is the alpha subunit of 3-methylcrotonyl-CoA carboxylase, a heteromeric enzyme localized in the mitochondrial matrix. It contains a biotin carboxylase domain and a biotin-binding domain, and it catalyzes the ATP-dependent carboxylation of 3-methylcrotonyl-CoA. The protein is essential for leucine catabolism, and defects lead to metabolic disorder.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MCCC1 Knockout HEK293 Cell Line | EDJ-KQ14215 | Human | 56922 | Details Get a Quote |
| MCCC1 Knockout A-549 Cell Line | EDJ-KQ44173 | Human | 56922 | Details Get a Quote |
| MCCC1 Knockout HCT 116 Cell Line | EDJ-KQ44174 | Human | 56922 | Details Get a Quote |
| MCCC1 Knockout HeLa Cell Line | EDJ-KQ44175 | Human | 56922 | Details Get a Quote |
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