ACADSB

ACADSB is a human is_associated_with::gene that encodes short/branched chain specific acyl-CoA dehydrogenase (SBCAD), an is_associated_with::enzyme in the is_associated_with::acyl CoA dehydrogenase family.

It can cause is_associated_with::short/branched-chain acyl-CoA dehydrogenase deficiency.

Structure
The human ACADSB gene is located on chromosome 10; its exact localization has been identified as 10q25-q26. The is_associated_with::open reading frame (ORF) encodes a precursor protein that contains 431 is_associated_with::amino acids; post-translational processing results in a mature protein with 399 amino acids. The cDNA is significantly similar to the is_associated_with::cDNA of other members of the acyl-CoA dehydrogenase family; its structure is closest to that of short chain acyl-CoA dehydrogenase. The structure of the catalytic pocket has also been studied; position 104 at the bottom of the substrate-binding pocket has been identified as important in determining the length of the primary carbon chain that can be accommodated. Altering residues at positions 105 and 177 have been demonstrated to affect the rate of the is_associated_with::dehydrogenation reactions.

Function
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. is_associated_with::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-is_associated_with::CoAs. The encoded protein is also involved in L-is_associated_with::leucine catabolism.

Clinical significance
Mutations in the ACADSB gene have been associated with 2-Methylbutyryl-CoA dehydrogenase (MBD) deficiency, an is_associated_with::autosomal is_associated_with::recessive is_associated_with::metabolic disorder of impaired is_associated_with::isoleucine degradation. Many mutations across the gene’s 10 exons have been identified, with the mutations causing is_associated_with::exon skipping and other transcriptional and translational errors. The disorder may be detected by MS/MS-based routine newborn screening due to the heightened presence of 2-methylbutyrylcarnitine in tissue samples. The disorder may also be identified using urinary organic acid analysis, by detecting the presence of 2-methylbutyryl is_associated_with::glycinuria. While many individuals with a mutation in this gene may be asymptomatic, some patients have been reported to have symptoms in early infancy. Infants may experience apneic episodes, generalized is_associated_with::muscle atrophy, is_associated_with::hypotonia, is_associated_with::lethargy,  seizures, and delayed motor development. Patients may also experience metabolic symptoms such as is_associated_with::hypothermia and is_associated_with::hypoglycemia. Finally, genetic polymorphisms of the ACADSB gene may also be involved in the development of is_associated_with::hypertension in the Japanese population.