LP188453-7

ACADSB gene

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Descriptions

Mutations in the ACADSB gene cause 2-methylbutyryl-CoA dehydrogenase deficiency, also called 2-methylbutyryl glycinuria or short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD). SBCADD is an autosomal recessive metabolic disorder with symptoms such as lethargy, muscle weakness, developmental delay and epilepsy. Deficiency in the 2-methylbutyryl-CoA dehydrogenase enzyme leads to reduced break down isoleucine and excess amounts of 2-methylbutyrylglycine and related compounds, causing serious health problems.[MedlinePlus Gene: ACADSB] Source: Regenstrief LOINC, ACADSB gene

The ACADSB gene (acyl-CoA dehydrogenase, short/branched chain) [HGNC Gene ID:91] is located on chromosome 10q26.13. Short/branched chain acyl-CoA dehydrogenase(ACADSB) is a member of the acyl-CoA dehydrogenase family of enzymes that catalyze the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty acids or branch chained amino acids. Substrate specificity is the primary characteristic used to define members of this gene family. The ACADSB gene product has the greatest activity towards the short branched chain acyl-CoA derivative, (S)-2-methylbutyryl-CoA, but also reacts significantly with other 2-methyl branched chain substrates and with short straight chain acyl-CoAs. The cDNA encodes for a mitochondrial precursor protein which is cleaved upon mitochondrial import and predicted to yield a mature peptide of approximately 43.7-KDa. [provided by RefSeq, Jul 2008] [NCBI Gene ID:36] Source: National Center for Biotechnology Information (NCBI) Gene

Basic Part Properties

Part Name

ACADSB gene

Part Display Name

ACADSB gene

Part Type

Component (Describes the core component or analyte measured)

Created On

2014-12-31

Construct for LOINC Short Name

ACADSB

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