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 |
|---|---|---|---|
| RS1057520695 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS115605600 | Health Risk | Conflicting classifications of pathogenicity | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS1191355416 | Health Risk | Conflicting classifications of pathogenicity | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS1307589698 | Health Risk | Conflicting classifications of pathogenicity | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS138480247 | Health Risk | Conflicting classifications of pathogenicity | 3-methylcrotonyl-CoA carboxylase 1 deficiency, Inborn genetic diseases, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS138937107 | Health Risk | Conflicting classifications of pathogenicity | 3-methylcrotonyl-CoA carboxylase 1 deficiency, Inborn genetic diseases, MCCC1-related disorder |
| RS140342772 | Health Risk | Conflicting classifications of pathogenicity | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS1404350628 | Health Risk | Conflicting classifications of pathogenicity | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS144182725 | Health Risk | Conflicting classifications of pathogenicity | 3-methylcrotonyl-CoA carboxylase 1 deficiency, Methylcrotonyl-CoA carboxylase deficiency, MCCC1-related disorder |
| RS144230304 | Health Risk | Conflicting classifications of pathogenicity | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS148616219 | Health Risk | Conflicting classifications of pathogenicity | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS149017703 | Health Risk | Conflicting classifications of pathogenicity | 3-methylcrotonyl-CoA carboxylase 1 deficiency, Methylcrotonyl-CoA carboxylase deficiency, Inborn genetic diseases |
| RS150783093 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, 3-methylcrotonyl-CoA carboxylase 1 deficiency, Inborn genetic diseases |
| RS1716671130 | Health Risk | Conflicting classifications of pathogenicity | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS1717925328 | Health Risk | Conflicting classifications of pathogenicity | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS199517715 | Health Risk | Conflicting classifications of pathogenicity | 3-methylcrotonyl-CoA carboxylase 1 deficiency, Inborn genetic diseases, Methylcrotonyl-CoA carboxylase deficiency |
| RS199528231 | Health Risk | Conflicting classifications of pathogenicity | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS201041864 | Health Risk | Conflicting classifications of pathogenicity | 3-methylcrotonyl-CoA carboxylase 1 deficiency, Methylcrotonyl-CoA carboxylase deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS201758122 | Health Risk | Conflicting classifications of pathogenicity | 3-methylcrotonyl-CoA carboxylase 1 deficiency, Inborn genetic diseases, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS201782543 | Health Risk | Conflicting classifications of pathogenicity | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS201806708 | Health Risk | Conflicting classifications of pathogenicity | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS202083272 | Health Risk | Conflicting classifications of pathogenicity | 3-methylcrotonyl-CoA carboxylase 1 deficiency, Inborn genetic diseases, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS202197951 | Health Risk | Conflicting classifications of pathogenicity | 3-methylcrotonyl-CoA carboxylase 1 deficiency, MCCC1-related disorder, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS369754994 | Health Risk | Conflicting classifications of pathogenicity | 3-methylcrotonyl-CoA carboxylase 1 deficiency, MCCC1-related disorder, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS375244642 | Health Risk | Conflicting classifications of pathogenicity | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS375996272 | Health Risk | Conflicting classifications of pathogenicity | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS377320336 | Health Risk | Conflicting classifications of pathogenicity | 3-methylcrotonyl-CoA carboxylase 1 deficiency, MCCC1-related disorder, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS398124352 | Health Risk | Conflicting classifications of pathogenicity | 3-methylcrotonyl-CoA carboxylase 1 deficiency, MCCC1-related disorder, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS398124353 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS567236851 | Health Risk | Conflicting classifications of pathogenicity | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS727504004 | Health Risk | Conflicting classifications of pathogenicity | 3-methylcrotonyl-CoA carboxylase 1 deficiency, MCCC1-related disorder, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS755328329 | Health Risk | Conflicting classifications of pathogenicity | 3-methylcrotonyl-CoA carboxylase 1 deficiency, MCCC1-related disorder, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS760180709 | Health Risk | Conflicting classifications of pathogenicity | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS761480737 | Health Risk | Conflicting classifications of pathogenicity | Methylcrotonyl-CoA carboxylase deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency, Inborn genetic diseases |
| RS763713221 | Health Risk | Conflicting classifications of pathogenicity | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS774352286 | Health Risk | Conflicting classifications of pathogenicity | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS77681010 | Health Risk | Conflicting classifications of pathogenicity | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS908545297 | Health Risk | Conflicting classifications of pathogenicity | Methylcrotonyl-CoA carboxylase deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency, Methylcrotonyl-CoA carboxylase deficiency |
| RS1000891879 | Health Risk | Likely pathogenic | Methylcrotonyl-CoA carboxylase deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency, Methylcrotonyl-CoA carboxylase deficiency |
| RS1182086058 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS119103215 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS1235781420 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS1279522271 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS1326114075 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS1337201010 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS1340827377 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS1486131108 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS1553854969 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS1577328073 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS1715495987 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |