2. Gene
  3. ACADSB - acyl-CoA dehydrogenase short/branched chain Gene

ACADSB - acyl-CoA dehydrogenase short/branched chain Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as ACAD7; SBCAD; 2-MEBCAD

Gene ID: 36 | Gene type: protein coding

About ACADSB

Cytogenetic location: 10q26.13 Genomic coordinates (GRCh38): 10:123,009,006-123,058,290 (from NCBI)

This gene has 4 transcripts (splice variants), 214 orthologues, 14 paralogues and is associated with 2 phenotypes. Broad expression in liver (RPKM 72.3), kidney (RPKM 32.5) and 16 other tissues.

Summary

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]

ACADSB Products(2)

mRNA Protein Name
NM_001330174.3 NP_001317103.1 short/branched chain specific acyl-CoA dehydrogenase, mitochondrial isoform 2
NM_001609.4 NP_001600.1 short/branched chain specific acyl-CoA dehydrogenase, mitochondrial isoform 1 precursor
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables identical protein binding IDA
IDA: Inferred from direct assay
11013134 GOA
enables short-chain 2-methyl fatty acyl-CoA dehydrogenase activity IDA
IDA: Inferred from direct assay
7698750 GOA
enables short-chain fatty acyl-CoA dehydrogenase activity IDA
IDA: Inferred from direct assay
7698750 GOA
Biological Process GO Annotation Evidence Reference Source
involved in fatty acid metabolic process IDA
IDA: Inferred from direct assay
7698750 GOA
involved in isoleucine catabolic process IMP
IMP: Inferred from mutant phenotype
11013134 GOA
Cellular Component GO Annotation Evidence Reference Source
located in mitochondrion IDA
IDA: Inferred from direct assay
11013134 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ACADSB Protein Structure

Acyl-CoA_dh_N

Acyl-CoA_dh_N: Acyl-CoA dehydrogenase, N-terminal domain (58 - 168)

Acyl-CoA_dh_M

Acyl-CoA_dh_M: Acyl-CoA dehydrogenase, middle domain (173 - 223)

Acyl-CoA_dh_1

Acyl-CoA_dh_1: Acyl-CoA dehydrogenase, C-terminal domain (280 - 428)

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  • 432 a.a.
Protein Preferred Names Protein Names

short/branched chain specific acyl-CoA dehydrogenase, mitochondrial

2-methyl branched chain acyl-CoA dehydrogenase

Related Diseases

Diseases Alias
2-Methylbutyryl-Coa Dehydrogenase Deficiency

Short/Branched-Chain Acyl-Coa Dehydrogenase Deficiency

2-Methylbutyryl Glycinuria

SBCADD

2-Methylbutyrylglycinuria

2-Methylbutyric Aciduria

Sbcad Deficiency

Deficiency Of 2-Methylbutyryl-Coa Dehydrogenase

Short Branched-Chain Acyl-Coa Dehydrogenase Deficiency

Short/Branched Chain Acyl-Coa Dehydrogenase Deficiency

2-Mbadd

2-Mbcd Deficiency

2-Mbg

2-Methylbutyryl-Coenzyme A Dehydrogenase Deficiency

Developmental Delay Due To 2-Methylbutyryl-Coa Dehydrogenase Deficiency
Acyl-Coa Dehydrogenase Deficiency
Isovaleric Acidemia

Isovaleric Acid Coa Dehydrogenase Deficiency

Isovaleryl-Coa Dehydrogenase Deficiency

IVA

Ivd Deficiency

Acidemia, Isovaleric

Isovaleric Aciduria

Isovaleryl Coa Carboxylase Deficiency

Isovaleric Acid-Coa Dehydrogenase Deficiency
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of

Scad Deficiency

Acads Deficiency

Lipid-Storage Myopathy Secondary To Short-Chain Acyl-Coa Dehydrogenase Deficiency

Scadh Deficiency

Short-Chain Acyl-Coa Dehydrogenase Deficiency

Deficiency Of Butyryl-Coa Dehydrogenase

Short Chain Acyl-Coa Dehydrogenase Deficiency

ACADSD

Scadd

Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

Acyl-Coa Dehydrogenase, Short Chain, Deficiency Of

Acyl-Coa Dehydrogenase Short-Chain Deficiency
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS00130 ACADSB Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta ACADSB VGNC VGNC:81343
Felis catus ACADSB VGNC VGNC:97338
Canis familiaris ACADSB VGNC VGNC:52979
Rattus norvegicus ACADSB RGD RGD:2013
Mus musculus ACADSB MGD MGI:1914135
Bos taurus ACADSB VGNC VGNC:50245