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FLASH GENE

Symbol

ACAD9

contributors: mct - updated : 11-06-2013

HGNC name	acyl-Coenzyme A dehydrogenase family, member 9
HGNC id	21497

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ACAD9D Acyl-CoA dehydrogenase 9 deficiency
Location	3q21.3      Physical location : 128.598.332 - 128.631.956
Synonym name	acyl-CoA dehydrogenase 9
	very-long-chain acyl-CoA dehydrogenase VLCAD
Synonym symbol(s)	ACAD-9, NPD002, MGC14452, FLJ23533
EC.number	1.3.99.-

DNA

TYPE	functioning gene
SPECIAL FEATURE	head to head
STRUCTURE	33.50 kb     18 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	Binding site
text structure	two evolutionarily highly conserved regions, each with duplicated sequences homologous to nuclear respiratory factor 1 (NRF-1) and cAMP-responsive element transcription-factor binding sites (CREB)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant a - - 1872 - - - He intron 21 and exon 22 overlap an unrelated gene, KIAA1257 variant b - - 2485 - 621 - He

EXPRESSION

Type	ubiquitous

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 mouth       highly Endocrine adrenal gland       highly Lymphoid/Immune spleen       highly Nervous brain       highly   spinal cord

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier lining retinal pigment epithelium (RPE)     Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Endocrine islet cell (alpha,beta...) Nervous neuron Visual cone photoreceptor Homo sapiens Visual ganglion cell Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

Homologene

FAMILY

mitochondrial acyl-CoA dehydrogenase protein family

CATEGORY

enzyme , transport carrier

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria
	intracellular,nucleus

basic FUNCTION	involved in electron transport
	long-chain acyl-CoA dehydrogenase in embryonic and fetal central nervous tissue, that may play a role in the turnover of lipid membrane unsaturated fatty acids essential for membrane integrity and structure
	playing a role in the mitochondrial beta-oxidation of long-chain unsaturated fatty acids
	playing a possible role in the recycling of complex neural lipids and production of intermediate metabolites for synthetic pathways
	role for ACAD9 in oxidative phosphorylation
	new function in complex I function, making this gene an important new candidate for patients with complex I deficiency, which could be improved by riboflavin treatment

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

electron transport

PATHWAY

metabolism

signaling

a component

TMEM126B forms a complex with other assembly factors: NDUFAF1, ACAD9, and ECSIT

INTERACTION

DNA

RNA

small molecule

protein	binds complex I assembly factors NDUFAF1 and ECSIT and is specifically required for the assembly of complex I
	TIMMDC1 reciprocally associate with multiple components of the ECSIT-TMEM126B-ACAD9-NDUFAF1 assembly factor complex (MCIA complex), as well as subunits of the soluble and matrix arms

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

ACAD9D

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS