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 |
|---|---|---|---|
| RS1307113234 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS142507365 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, Methylcrotonyl-CoA carboxylase deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS1453886049 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS147741073 | Health Risk | Pathogenic | — |
| RS1484347924 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS150862707 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS1553850609 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS1553856095 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS1560256569 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS1577276144 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS1577328234 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS1712031289 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS1713695107 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS1716637067 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS1716766263 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS199914879 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, Methylcrotonyl-CoA carboxylase deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS2108441358 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS2108441527 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS2108461735 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS2108474093 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS2108478837 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS2108478897 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS2108479383 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS2108496973 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS2108505736 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS2108526541 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS2108565864 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS2108569910 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS2530014641 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS2530043474 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS2530101395 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS2530166738 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS2530194420 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS2530195072 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS2530273568 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS2530274504 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS2530362884 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS2530363834 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS2530372155 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS2530372828 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS2530508755 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS2530560048 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS544349961 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, Methylcrotonyl-CoA carboxylase deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS727504002 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, Methylcrotonyl-CoA carboxylase deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS747015041 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS750484977 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS762463137 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS765149078 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS772010858 | Health Risk | Pathogenic | — |
| RS772498224 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |