ACADSB

ACADSB
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2JIF
Identifiers
Aliases	ACADSB, acyl-CoA dehydrogenase, short/branched chain, 2-MEBCAD, ACAD7, SBCAD, acyl-CoA dehydrogenase short/branched chain
External IDs	OMIM: 600301; MGI: 1914135; HomoloGene: 1216; GeneCards: ACADSB; OMA:ACADSB - orthologs
Gene location (Human) Chr. Chromosome 10 (human)[1] Band 10q26.13 Start 123,008,979 bp[1] End 123,058,290 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7|7 F3 Start 131,012,330 bp[2] End 131,050,673 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right lobe of liver biceps brachii renal medulla right ventricle duodenum jejunal mucosa kidney gastrocnemius muscle body of tongue endothelial cell Top expressed in epithelium of stomach parotid gland brown adipose tissue seminal vesicula masseter muscle ciliary body white adipose tissue left lobe of liver right ventricle intercostal muscle More reference expression data BioGPS n/a
Gene ontology Molecular function oxidoreductase activity, acting on the CH-CH group of donors oxidoreductase activity acyl-CoA dehydrogenase activity flavin adenine dinucleotide binding Cellular component mitochondrial matrix mitochondrion Biological process branched-chain amino acid catabolic process fatty acid metabolic process lipid metabolism Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 36 66885 Ensembl ENSG00000196177 ENSMUSG00000030861 UniProt P45954 Q9DBL1 RefSeq (mRNA) NM_001609 NM_001330174 NM_025826 RefSeq (protein) NP_001317103 NP_001600 NP_080102 Location (UCSC) Chr 10: 123.01 – 123.06 Mb Chr 7: 131.01 – 131.05 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

It can cause short/branched-chain acyl-CoA dehydrogenase deficiency.^[5]

Structure

The human ACADSB gene is located on chromosome 10; its exact localization has been identified as 10q25-q26.^[6] The open reading frame (ORF) encodes a precursor protein that contains 431 amino acids; post-translational processing results in a mature protein with 399 amino acids. The cDNA is significantly similar to the cDNA of other members of the acyl-CoA dehydrogenase family; its structure is closest to that of short chain acyl-CoA dehydrogenase.^[7] 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 dehydrogenation reactions.^[8]

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. 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.^[9] The encoded protein is also involved in L-leucine catabolism.^[10]

Clinical significance

Mutations in the ACADSB gene have been associated with 2-Methylbutyryl-CoA dehydrogenase deficiency (SBCADD, also known as MBD) deficiency, an autosomal recessive metabolic disorder of impaired isoleucine degradation.^[11] Many mutations across the gene's 10 exons have been identified, with the mutations causing 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.^[12][13] The disorder may also be identified using urinary organic acid analysis, by detecting the presence of 2-methylbutyryl glycinuria.^[10] 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 muscle atrophy, hypotonia, lethargy, seizures, and delayed motor development. Patients may also experience metabolic symptoms such as hypothermia and hypoglycemia.^[14] Finally, genetic polymorphisms of the ACADSB gene may also be involved in the development of hypertension in the Japanese population.^[15]

References

External links

• Human ACADSB genome location and ACADSB gene details page in the UCSC Genome Browser.
• Overview of all the structural information available in the PDB for UniProt: P45954 (Short/branched chain specific acyl-CoA dehydrogenase, mitochondrial) at the PDBe-KB.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

This oxidoreductase article is a stub. You can help Wikipedia by expanding it.

• v
• t
• e