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 |
|---|---|---|---|
| RS115328026 | Health Risk | Conflicting classifications of pathogenicity | 3-methylcrotonyl-CoA carboxylase 2 deficiency, MCCC2-related disorder, Gastric cancer |
| RS1249235767 | Health Risk | Conflicting classifications of pathogenicity | Methylcrotonyl-CoA carboxylase deficiency, MCCC2-related disorder, Methylcrotonyl-CoA carboxylase deficiency |
| RS1254750166 | Health Risk | Conflicting classifications of pathogenicity | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS140806722 | Health Risk | Conflicting classifications of pathogenicity | 3-methylcrotonyl-CoA carboxylase 2 deficiency, Methylcrotonyl-CoA carboxylase deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS143156315 | Health Risk | Conflicting classifications of pathogenicity | 3-methylcrotonyl-CoA carboxylase 2 deficiency, Inborn genetic diseases, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS144203670 | Health Risk | Conflicting classifications of pathogenicity | 3-methylcrotonyl-CoA carboxylase 2 deficiency, Methylcrotonyl-CoA carboxylase deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS1443551700 | Health Risk | Conflicting classifications of pathogenicity | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS1459143051 | Health Risk | Conflicting classifications of pathogenicity | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS148369119 | Health Risk | Conflicting classifications of pathogenicity | 3-methylcrotonyl-CoA carboxylase 2 deficiency, Uterine carcinosarcoma, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS1580281124 | Health Risk | Conflicting classifications of pathogenicity | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS186132078 | Health Risk | Conflicting classifications of pathogenicity | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS201872484 | Health Risk | Conflicting classifications of pathogenicity | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS2530808483 | Health Risk | Conflicting classifications of pathogenicity | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS35068278 | Health Risk | Conflicting classifications of pathogenicity | 3-methylcrotonyl-CoA carboxylase 2 deficiency, Methylcrotonyl-CoA carboxylase deficiency, Inborn genetic diseases |
| RS368236133 | Health Risk | Conflicting classifications of pathogenicity | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS371587906 | Health Risk | Conflicting classifications of pathogenicity | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS374049769 | Health Risk | Conflicting classifications of pathogenicity | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS727504009 | Health Risk | Conflicting classifications of pathogenicity | 3-methylcrotonyl-CoA carboxylase 2 deficiency, MCCC2-related disorder, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS727504011 | Health Risk | Conflicting classifications of pathogenicity | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS745367639 | Health Risk | Conflicting classifications of pathogenicity | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS748028684 | Health Risk | Conflicting classifications of pathogenicity | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS751133336 | Health Risk | Conflicting classifications of pathogenicity | 3-methylcrotonyl-CoA carboxylase 2 deficiency, Inborn genetic diseases, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS753443203 | Health Risk | Conflicting classifications of pathogenicity | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS754741111 | Health Risk | Conflicting classifications of pathogenicity | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS760363054 | Health Risk | Conflicting classifications of pathogenicity | 3-methylcrotonyl-CoA carboxylase 2 deficiency, Inborn genetic diseases, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS766045910 | Health Risk | Conflicting classifications of pathogenicity | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS768272570 | Health Risk | Conflicting classifications of pathogenicity | 3-methylcrotonyl-CoA carboxylase 2 deficiency, Methylcrotonyl-CoA carboxylase deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS770917710 | Health Risk | Conflicting classifications of pathogenicity | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS776559643 | Health Risk | Conflicting classifications of pathogenicity | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS797044772 | Health Risk | Conflicting classifications of pathogenicity | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS886060738 | Health Risk | Conflicting classifications of pathogenicity | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS924068629 | Health Risk | Conflicting classifications of pathogenicity | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS979584886 | Health Risk | Conflicting classifications of pathogenicity | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS991996366 | Health Risk | Conflicting classifications of pathogenicity | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS1022880212 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS1049171546 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS1165990855 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS1199687513 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS1231522341 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS1238687077 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, Inborn genetic diseases, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS1280511914 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS1302216206 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS1349001113 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS1352606118 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS1440411798 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS1474201425 | Health Risk | Likely pathogenic | — |
| RS150327768 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, Methylcrotonyl-CoA carboxylase deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS1554134056 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS1554138549 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS1580273474 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |