MCCC1 Chromosome 3
Methylcrotonyl-CoA carboxylase subunit 1
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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 |
|---|---|---|---|
| RS768630906 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS768785753 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, Methylcrotonyl-CoA carboxylase deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS772395858 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, Methylcrotonyl-CoA carboxylase deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS773583869 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS776641008 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |
| RS796051986 | Health Risk | Pathogenic/Likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency |