ACADSB - acyl-CoA dehydrogenase short/branched chain Gene

Also Known as ACAD7; SBCAD; 2-MEBCAD

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 36

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	References	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	References	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	References	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_M

Acyl-CoA_dh_1

0
100
200
300
400
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

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00130	ACADSB Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20132	Acadsb Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26636	Acadsb Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	ACADSB	NCBI