Human Gene MCCC1 (uc011bqq.1) Description and Page Index
Description: Homo sapiens methylcrotonoyl-CoA carboxylase 1 (alpha) (MCCC1), nuclear gene encoding mitochondrial protein, mRNA. RefSeq Summary (NM_020166): 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]. Transcript (Including UTRs) Position: hg19 chr3:182,763,201-182,817,365 Size: 54,165 Total Exon Count: 9 Strand: - Coding Region Position: hg19 chr3:182,763,201-182,804,522 Size: 41,322 Coding Exon Count: 7
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): MCCC1 CDC HuGE Published Literature: MCCC1 Positive Disease Associations: Parkinson Disease Related Studies:
Parkinson Disease Michael A Nalls et al. Lancet 2011, Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies., Lancet.
These data provide an insight into the genetics of Parkinsons disease and the molecular cause of the disease and could provide future targets for therapies.
Parkinson Disease Chuong B Do et al. PLoS genetics 2011, Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease., PLoS genetics.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on G5E9X5
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.