ACADSB
| ACADSB | |||
|---|---|---|---|
Gene ontology | |||
| Molecular function | |||
| Cellular component | |||
| Biological process | |||
| Sources:Amigo / QuickGO | |||
Ensembl | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| UniProt | |||||||||
| RefSeq (mRNA) | |||||||||
| RefSeq (protein) | |||||||||
| Location (UCSC) | Chr 10: 123.01 – 123.06 Mb | Chr 7: 131.01 – 131.05 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
| View/Edit Human | View/Edit Mouse |
ACADSB is a human
acyl CoA dehydrogenase
family.
It can cause
short/branched-chain acyl-CoA dehydrogenase deficiency.[5]
Structure
The human ACADSB gene is located on
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
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
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
- ^ a b c GRCh38: Ensembl release 89: ENSG00000196177 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000030861 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- PMID 11013134.
- PMID 7759115.
- PMID 7698750.
- PMID 12855692.
- ^ "Entrez Gene: acyl-CoA dehydrogenase, short/branched chain".
- ^ PMID 11013134.
- PMID 17945527.
- S2CID 22861705.
- PMID 20547083.
- PMID 10832746.
- S2CID 40885244.
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.
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