Acyl-CoA Dehydrogenase, Short/Branched Chain

Alternative Names

  • ACADSB
  • SBCAD
  • 2-Methylbutyryl-CoA Dehydrogenase
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OMIM Number

600301

NCBI Gene ID

36

Uniprot ID

P45954

Length

49,399 bases

No. of Exons

11

No. of isoforms

2

Protein Name

Short/branched chain specific acyl-CoA dehydrogenase, mitochondrial

Molecular Mass

47485 Da

Amino Acid Count

432

Genomic Location

chr10:123,008,913-123,058,311

Gene Map Locus
10q26.13

Description

Short/Branched Chain Acyl CoA Dehydrogenase is a mitochondrial enzyme that belongs to the Acyl CoA Dehydrogenase family of enzymes. Like other members of this family, the ACADSB enzyme also catalyzes the first step of beta-oxidation of fatty acids using FAD as a cofactor. However, this enzyme shows the highest affinity towards short branched chain acyl-CoA derivatives, especially 2-methylbutyryl-CoA, isobutyryl-CoA, and hexanoyl-CoA. ACADSB also catalyzes an important step in the metabolism of the amino acid isoleucine.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001609.3:c.1159G>ALebanonNC_000010.11:g.123053091G>ALikely Pathogenic, Pathogenic, Uncertain SignificancePathogenic2-Methylbutyryl-CoA Dehydrogenase DeficiencyNG_008003.1:g.49179G>A; NM_001609.3:c.1159G>A; NP_001600.1:p.Glu387Lys1880942809203
NM_001609.3:c.303+3A>GEritrea; SomaliaChr10:123037850Pathogenic2-Methylbutyryl-CoA Dehydrogenase DeficiencyNG_008003.1:g.33938A>G; NM_001609.3:c.303+3A>G1345480688
NM_001609.3:c.443C>T LebanonNC_000010.11:g.123040605C>TLikely Pathogenic, Pathogenic, Uncertain SignificancePathogenic2-Methylbutyryl-CoA Dehydrogenase DeficiencyNG_008003.1:g.36693C>T; NM_001609.3:c.443C>T ; NP_001600.1:p.Thr148Ile586393229202
NM_001609.3:c.763C>TEritreaChr10:123043127PathogenicPathogenic2-Methylbutyryl-CoA Dehydrogenase DeficiencyNG_008003.1:g.39215C>T; NM_001609.3:c.763C>T; NP_001600.1:p.Leu255Phe1378526499200
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