Human Gene MCCC2 (ENST00000340941.11) from GENCODE V44
Description: Homo sapiens methylcrotonoyl-CoA carboxylase 2 (MCCC2), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_022132) RefSeq Summary (NM_022132): This gene encodes the small 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. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2018]. Gencode Transcript: ENST00000340941.11 Gencode Gene: ENSG00000131844.17 Transcript (Including UTRs) Position: hg38 chr5:71,587,340-71,658,706 Size: 71,367 Total Exon Count: 17 Strand: + Coding Region Position: hg38 chr5:71,587,426-71,656,860 Size: 69,435 Coding Exon Count: 17
ID:MCCB_HUMAN DESCRIPTION: RecName: Full=Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial; Short=MCCase subunit beta; EC=6.4.1.4; AltName: Full=3-methylcrotonyl-CoA carboxylase 2; AltName: Full=3-methylcrotonyl-CoA carboxylase non-biotin-containing subunit; AltName: Full=3-methylcrotonyl-CoA:carbon dioxide ligase subunit beta; Flags: Precursor; CATALYTIC ACTIVITY: ATP + 3-methylcrotonoyl-CoA + HCO(3)(-) = ADP + phosphate + 3-methylglutaconyl-CoA. PATHWAY: Amino-acid degradation; L-leucine degradation; (S)-3- hydroxy-3-methylglutaryl-CoA from 3-isovaleryl-CoA: step 2/3. SUBUNIT: Probably a dodecamer composed of six biotin-containing alpha subunits and six beta subunits. SUBCELLULAR LOCATION: Mitochondrion matrix. DISEASE: Defects in MCCC2 are the cause of methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]. An autosomal recessive disorder of leucine catabolism. The phenotype is variable, ranging from neonatal onset with severe neurological involvement to asymptomatic adults. There is a characteristic organic aciduria with massive excretion of 3-hydroxyisovaleric acid and 3-methylcrotonylglycine, usually in combination with a severe secondary carnitine deficiency. SIMILARITY: Belongs to the AccD/PCCB family. SIMILARITY: Contains 1 carboxyltransferase domain. SEQUENCE CAUTION: Sequence=AAH14897.1; Type=Frameshift; Positions=359; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MCCC2";
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 Q9HCC0
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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.
Biological Process: GO:0006552 leucine catabolic process GO:0006768 biotin metabolic process GO:0015936 coenzyme A metabolic process GO:0051291 protein heterooligomerization
US Server
