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FLASH GENE

Symbol

ACADSB

contributors: mct - updated : 18-11-2010

HGNC name	acyl-Coenzyme A dehydrogenase, short/branched chain
HGNC id	91

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ACADSBD 2-methylbutyryl-CoA dehydrogenase deficiency
Location	10q26.13      Physical location : 124.768.428 - 124.817.805
Synonym name	2-methyl branched chain acyl-CoA dehydrogenase
	2-methylbutyryl-CoA dehydrogenase
Synonym symbol(s)	SBCAD, 2-MEBCAD, ACAD7, hSCAD
EC.number	1.3.99.-

DNA

TYPE	functioning gene
STRUCTURE	49.45 kb     11 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001609 11 - 5941 NP_001600 47.5 432 - 2010 20547083

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive intestine small intestine     highly   liver       highly Urinary bladder       highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	an all-alpha all terminal domain, transmembrane segment
	C terminal domain
	all-alpha, four helical up-and-down bundle

mono polymer

homomer , tetramer

isoforms

Precursor

HOMOLOGY

Homologene

FAMILY

acyl-CoA dehydrogenase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,matrix

basic FUNCTION	catalyzing the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty acids or branch chained amino acids
	catalyzes the first matrix step in the mitochondrial beta-oxidation cycle with optimal activity toward butyryl- and hexanoyl-CoA
	may play a role in controlling the metabolic flux of valproic acid in the development of toxicity of this agent

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

energetic , lipid/lipoprotein

signaling

mitochondrial fatty acid beta-oxidation system, first step

a component

INTERACTION

DNA

RNA

small molecule	cofactor, nucleotide,
	FAD+

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

ACADSBD

related resource

MITOP database

Susceptibility

to hypertension

Variant & Polymorphism other	possible involvement of genetic polymorphisms in ACADSB in essential hypertension

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS