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 |
|---|---|---|---|
| RS142887940 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, Methylcrotonyl-CoA carboxylase deficiency, Nonpapillary renal cell carcinoma |
| RS1463802125 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS147903984 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS148773718 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, Inborn genetic diseases, MCCC2-related disorder |
| RS150591260 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, Methylcrotonyl-CoA carboxylase deficiency, Inborn genetic diseases |
| RS1554138265 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, Methylcrotonyl-CoA carboxylase deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS1745476784 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS1747595026 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS2112251855 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS2112412398 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS2112427637 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS2112460011 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS2112463755 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, Methylcrotonyl-CoA carboxylase deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS2530820915 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS2530870782 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS277995 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, MCCC2-related disorder, Methylcrotonyl-CoA carboxylase deficiency |
| RS547662164 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, Methylcrotonyl-CoA carboxylase deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS727504010 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS751393852 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS751970792 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, Methylcrotonyl-CoA carboxylase deficiency, MCCC2-related disorder |
| RS752593298 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, Methylcrotonyl-CoA carboxylase deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS756218448 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS757052602 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, Methylcrotonyl-CoA carboxylase deficiency, Inborn genetic diseases |
| RS758794885 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS760881963 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, MCCC2-related disorder, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS761700756 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS763293192 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS765438239 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, Methylcrotonyl-CoA carboxylase deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS766753795 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, Methylcrotonyl-CoA carboxylase deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS773774134 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, Methylcrotonyl-CoA carboxylase deficiency, MCCC2-related disorder |
| RS774180632 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS774241918 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, Methylcrotonyl-CoA carboxylase deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS780304038 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS796051989 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS944539388 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |