MCCC1 Chromosome 3
Methylcrotonyl-CoA carboxylase subunit 1
Upload your DNA to see your personal genotypes for variants in MCCC1.
What This Gene Does
This gene encodes the large 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. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Methylcrotonyl-CoA carboxylase subunits
Locus Type
gene with protein product
Location
3q27.1
Ensembl
ENSG00000078070
Associated Conditions (9)
3-methylcrotonyl-CoA carboxylase 1 deficiency
Inborn genetic diseases
MCCC1-related disorder
Uterine corpus endometrial carcinoma
Methylcrotonyl-CoA carboxylase deficiency
Sarcoma
Ovarian serous cystadenocarcinoma
Nonpapillary renal cell carcinoma
Cervical cancer
Key Variants
RS1057520695
Conflicting classifications of pathogenicity
Health Risk
RS115605600
Conflicting classifications of pathogenicity
3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
Health Risk
RS1191355416
Conflicting classifications of pathogenicity
3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
Health Risk
RS1307589698
Conflicting classifications of pathogenicity
3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
Health Risk
RS138480247
Conflicting classifications of pathogenicity
3-methylcrotonyl-CoA carboxylase 1 deficiency, Inborn genetic diseases, 3-methylcrotonyl-CoA carboxylase 1 deficiency
Health Risk
RS138937107
Conflicting classifications of pathogenicity
3-methylcrotonyl-CoA carboxylase 1 deficiency, Inborn genetic diseases, MCCC1-related disorder
Health Risk
RS140342772
Conflicting classifications of pathogenicity
3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
Health Risk
RS1404350628
Conflicting classifications of pathogenicity
3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
Health Risk
RS144182725
Conflicting classifications of pathogenicity
3-methylcrotonyl-CoA carboxylase 1 deficiency, Methylcrotonyl-CoA carboxylase deficiency, MCCC1-related disorder
Health Risk
RS144230304
Conflicting classifications of pathogenicity
3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
Health Risk
RS148616219
Conflicting classifications of pathogenicity
3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
Health Risk
RS149017703
Conflicting classifications of pathogenicity
3-methylcrotonyl-CoA carboxylase 1 deficiency, Methylcrotonyl-CoA carboxylase deficiency, Inborn genetic diseases
Health Risk
All Variants (206)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS776254500 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, MCCC1-related disorder, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS779412317 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS780499601 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS796051985 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS886058209 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, Methylcrotonyl-CoA carboxylase deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS905321122 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS920162850 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS1012193526 | Health Risk | Pathogenic/Likely pathogenic | Methylcrotonyl-CoA carboxylase deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency, Methylcrotonyl-CoA carboxylase deficiency |
| RS1163620394 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS1177891822 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS119103212 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, Methylcrotonyl-CoA carboxylase deficiency, Inborn genetic diseases |
| RS119103213 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, Methylcrotonyl-CoA carboxylase deficiency, Inborn genetic diseases |
| RS119103217 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, Methylcrotonyl-CoA carboxylase deficiency, MCCC1-related disorder |
| RS1243671468 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS1311139055 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS1311374961 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS1331457189 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS1333994006 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, MCCC1-related disorder, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS1394547323 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, MCCC1-related disorder, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS1486240538 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS1553862845 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS1560224024 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, MCCC1-related disorder, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS1712230544 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS1713693597 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS1713700813 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS1714102462 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS1718431677 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS185741664 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, Methylcrotonyl-CoA carboxylase deficiency, MCCC1-related disorder |
| RS2108441513 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS2108479136 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, MCCC1-related disorder, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS2108526355 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS2108526606 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS2530057514 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS2530101552 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS2530128064 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS2530130369 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS2530166841 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS2530362767 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS367625370 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS376289130 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, Methylcrotonyl-CoA carboxylase deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS398124350 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS727504001 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, Methylcrotonyl-CoA carboxylase deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS727504005 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, MCCC1-related disorder, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS727504006 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS746267545 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS746500530 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, Methylcrotonyl-CoA carboxylase deficiency, MCCC1-related disorder |
| RS748201122 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS748269732 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS761110034 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS764744442 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, Methylcrotonyl-CoA carboxylase deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |