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 |
|---|---|---|---|
| RS1718608300 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS2108428908 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS2108437770 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS2108446715 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, Ovarian serous cystadenocarcinoma, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS2108470990 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS2108479565 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS2108525892 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS2108528645 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS2530014786 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS2530032021 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS2530032256 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS2530032320 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS2530043718 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS2530057605 | Health Risk | Likely pathogenic | MCCC1-related disorder, MCCC1-related disorder |
| RS2530057792 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS2530101486 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS2530102458 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS2530145157 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS2530166964 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS2530272868 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS2530273629 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS2530360005 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS2530363576 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS2530461749 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, Nonpapillary renal cell carcinoma, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS2530461777 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS2530462164 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS2530462882 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS2530508699 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS2530509776 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS2530510478 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS398124351 | Health Risk | Likely pathogenic | — |
| RS537827975 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS745580589 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS754460336 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, Methylcrotonyl-CoA carboxylase deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS762463914 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, MCCC1-related disorder, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS762762143 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS763877330 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, Cervical cancer, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS771730236 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, MCCC1-related disorder, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS773433541 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS778741620 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS781572557 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS966900131 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS990505166 | Health Risk | Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS1162953685 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS119103214 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS119103216 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS119103218 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS1191868168 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS1212517901 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, Methylcrotonyl-CoA carboxylase deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS1303867228 | Health Risk | Pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |