产品名称
MCCB Rabbit Polyclonal Antibody
别名
Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial (MCCase subunit beta) (EC 6.4.1.4) (3-methylcrotonyl-CoA carboxylase 2) (3-methylcrotonyl-CoA carboxylase non-biotin-containing subunit) (3-methylcrotonyl-CoA:carbon dioxide ligase subunit beta)
存储缓冲液
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.108% New type preservative N.
Human Gene Link
https://www.uniprot.org/uniprot/64087
Human Swissprot No.
Q9HCC0
Human Swissprot Link
https://www.uniprot.org/uniprotkb/Q9HCC0/entry
Mouse Gene Link
https://www.uniprot.org/uniprot/78038
Mouse Swissprot No.
Q3ULD5
Mouse Swissprot Link
https://www.uniprot.org/uniprotkb/Q3ULD5
Rat Gene Link
https://www.uniprot.org/uniprot/361884
Rat Swissprot Link
https://www.uniprot.org/uniprotkb/Q5XIT9
免疫原
Synthesized peptide derived from human MCCB AA range: 204-254
特异性
This antibody detects endogenous levels of MCCB at Human/Mouse/Rat
宿主
Polyclonal, Rabbit,IgG
背景介绍
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. [provided by RefSeq, Jul 2008],
细胞定位
Mitochondrion matrix .
功能
catalytic activity:ATP + 3-methylcrotonoyl-CoA + HCO(3)(-) = ADP + phosphate + 3-methylglutaconyl-CoA.,disease:Defects in MCCC2 are the cause of methylcrotonoyl-CoA carboxylase deficiency type 2 (MCC2 deficiency) [MIM:210210]. MCC2 deficiency is 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.,pathway:Amino-acid degradation; L-leucine degradation; HMG-CoA from 3-isovaleryl-CoA: step 2/3.,similarity:Belongs to the accD/PCCB family.,similarity:Contains 1 carboxyltransferase domain.,subunit:Probably a dodecamer composed of six biotin-containing alpha subunits and six beta subunits.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
