NP_001012177.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Related Accession #
Molecular Weight
61,517 Da
NCBI Official Full Name
methylcrotonoyl-CoA carboxylase beta chain, mitochondrial
NCBI Official Synonym Full Names
methylcrotonoyl-CoA carboxylase 2 (beta)
NCBI Protein Information
methylcrotonoyl-CoA carboxylase beta chain, mitochondrial
UniProt Protein Name
Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial
UniProt Synonym Protein Names
3-methylcrotonyl-CoA carboxylase 2; 3-methylcrotonyl-CoA carboxylase non-biotin-containing subunit; 3-methylcrotonyl-CoA:carbon dioxide ligase subunit beta
UniProt Synonym Gene Names
UniProt Entry Name
MCCB_RAT
UniProt Comments for MCCC2
MCCC2: Defects in MCCC2 are the cause of methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D). 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. Belongs to the AccD/PCCB family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Mitochondrial; EC 6.4.1.4; Ligase; Amino Acid Metabolism - valine, leucine and isoleucine degradation
Cellular Component: mitochondrion; mitochondrial matrix
Molecular Function: methylcrotonoyl-CoA carboxylase activity; ATP binding
Biological Process: coenzyme A metabolic process; leucine catabolic process
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Products associated with MCCC2 sirna
Pathways associated with MCCC2 sirna
Diseases associated with MCCC2 sirna
Organs/Tissues associated with MCCC2 sirna
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