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 |
|---|---|---|---|
| RS1580337435 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS1744812773 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS1745349463 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS1745585444 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS1746741258 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS1747269311 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS1747397763 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS2112308599 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS2112329234 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS2112437820 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS2112453728 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS2112468012 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS2112469361 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS2530684428 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS2530684724 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS2530712355 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS2530712392 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS2530723770 | Health Risk | Likely pathogenic | Methylcrotonyl-CoA carboxylase deficiency, Methylcrotonyl-CoA carboxylase deficiency |
| RS2530733439 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, Methylcrotonyl-CoA carboxylase deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS2530733573 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS2530733729 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS2530733986 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS2530740266 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS2530740954 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS2530808441 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS2530809001 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS2530820911 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS2530821118 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS2530829065 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS2530829433 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS2530853365 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS2530853519 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS2530858076 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS2530858195 | Health Risk | Likely pathogenic | MCCC2-related disorder, MCCC2-related disorder |
| RS2530858303 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS2530858327 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS2530859864 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS2530859869 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS2530870567 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS367617209 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS531567604 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS535519604 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS730880265 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS752866557 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS758506791 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, Methylcrotonyl-CoA carboxylase deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS760420191 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, Methylcrotonyl-CoA carboxylase deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS767575019 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, Methylcrotonyl-CoA carboxylase deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS769558016 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, Methylcrotonyl-CoA carboxylase deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS773115035 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS781013376 | Health Risk | Likely pathogenic | Methylcrotonyl-CoA carboxylase deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency, Methylcrotonyl-CoA carboxylase deficiency |