MCCC1 methylcrotonyl-CoA carboxylase subunit 1
Gene ID: 56922, updated on 11-Apr-2024Gene type: protein coding
Also known as: MCCA; MCC-B; MCCCalpha
- See all available tests in GTR for this gene
- Go to complete Gene record for MCCC1
- Go to Variation Viewer for MCCC1 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| 3-methylcrotonyl-CoA carboxylase 1 deficiency | See labs |
| An atlas of genetic influences on human blood metabolites. GeneReviews: Not available | |
| Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. GeneReviews: Not available | |
| Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease. GeneReviews: Not available | |
| Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease. GeneReviews: Not available |
Genomic context
- Location:
- 3q27.1
- Sequence:
- Chromosome: 3; NC_000003.12 (183015218..183116196, complement)
- Total number of exons:
- 23
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MCCC1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MCCC1 database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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