ACADSB - acyl-CoA dehydrogenase short/branched chain Gene

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00130	ACADSB Human Pre-designed siRNA Set A		/	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

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