MCCC2 Chromosome 5
Methylcrotonyl-CoA carboxylase subunit 2
Upload your DNA to see your personal genotypes for variants in MCCC2.
What This Gene Does
This gene encodes the small subunit of 3-methylcrotonyl-CoA carboxylase. This enzyme functions as a heterodimer and catalyzes the carboxylation of 3-methylcrotonyl-CoA to form 3-methylglutaconyl-CoA. Mutations in this gene are associated with 3-Methylcrotonylglycinuria, an autosomal recessive disorder of leucine catabolism. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2018]
Gene Info
Gene Group
Methylcrotonyl-CoA carboxylase subunits
Locus Type
gene with protein product
Location
5q13.2
Ensembl
ENSG00000131844
Associated Conditions (10)
3-methylcrotonyl-CoA carboxylase 2 deficiency
MCCC2-related disorder
Gastric cancer
Ovarian serous cystadenocarcinoma
Methylcrotonyl-CoA carboxylase deficiency
Inborn genetic diseases
Uterine carcinosarcoma
Autism spectrum disorder
Nonpapillary renal cell carcinoma
See cases
Key Variants
RS115328026
Conflicting classifications of pathogenicity
3-methylcrotonyl-CoA carboxylase 2 deficiency, MCCC2-related disorder, Gastric cancer
Health Risk
RS1249235767
Conflicting classifications of pathogenicity
Methylcrotonyl-CoA carboxylase deficiency, MCCC2-related disorder, Methylcrotonyl-CoA carboxylase deficiency
Health Risk
RS1254750166
Conflicting classifications of pathogenicity
3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
Health Risk
RS140806722
Conflicting classifications of pathogenicity
3-methylcrotonyl-CoA carboxylase 2 deficiency, Methylcrotonyl-CoA carboxylase deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
Health Risk
RS143156315
Conflicting classifications of pathogenicity
3-methylcrotonyl-CoA carboxylase 2 deficiency, Inborn genetic diseases, 3-methylcrotonyl-CoA carboxylase 2 deficiency
Health Risk
RS144203670
Conflicting classifications of pathogenicity
3-methylcrotonyl-CoA carboxylase 2 deficiency, Methylcrotonyl-CoA carboxylase deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
Health Risk
RS1443551700
Conflicting classifications of pathogenicity
3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
Health Risk
RS1459143051
Conflicting classifications of pathogenicity
3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
Health Risk
RS148369119
Conflicting classifications of pathogenicity
3-methylcrotonyl-CoA carboxylase 2 deficiency, Uterine carcinosarcoma, 3-methylcrotonyl-CoA carboxylase 2 deficiency
Health Risk
RS1580281124
Conflicting classifications of pathogenicity
3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
Health Risk
RS186132078
Conflicting classifications of pathogenicity
3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
Health Risk
RS201872484
Conflicting classifications of pathogenicity
3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
Health Risk
All Variants (185)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS781559418 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS886043524 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS1184301452 | Health Risk | Pathogenic | — |
| RS119103223 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS119103225 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS1248143390 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS1282502867 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS1413464990 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS1554134061 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS1554137532 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS1580280976 | Health Risk | Pathogenic | — |
| RS1580319814 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS1745344357 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS1745582317 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS1746738845 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS1746873504 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS1747357327 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS2112251301 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS2112308910 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS2112309156 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS2112328709 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS2112437401 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS2112438432 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS2112463671 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS2112467862 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS2530683847 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS2530684414 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS2530740239 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS2530808635 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS2530808704 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS2530821025 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS2530849457 | Health Risk | Pathogenic | Methylcrotonyl-CoA carboxylase deficiency, Methylcrotonyl-CoA carboxylase deficiency |
| RS2530853368 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS2530860140 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS398124372 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS531994517 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS587776533 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS764213364 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS764286389 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS770769655 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS780011606 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, Methylcrotonyl-CoA carboxylase deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS1190325113 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS119103219 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, Methylcrotonyl-CoA carboxylase deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS119103220 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS119103221 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, Autism spectrum disorder, Methylcrotonyl-CoA carboxylase deficiency |
| RS119103222 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, Methylcrotonyl-CoA carboxylase deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS119103224 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, Methylcrotonyl-CoA carboxylase deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS119103226 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS1304896406 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS141030969 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, Methylcrotonyl-CoA carboxylase deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |