Human Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial (MCCC2) ELISA Kit

MCCC2 is 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. Defects in MCCC2 are the cause of methylcrotonoyl-CoA carboxylase deficiency type 2 (MCC2 deficiency) . 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.

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SPECIFICATIONS

Catalog Number

KTE61696

Size

48T, 96T, 96T*5, 96T*50

Applications

ELISA

Reactivities

Hum

Gene Id

64087

Accession

Q9HCC0

Additional Info

Human Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial (MCCC2) ELISA Kit has high sensitivity and excellent specificity for detection of Human MCCC2. No significant cross-reactivity or interference between Human MCCC2 and analogues was observed.