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FLASH GENE

Symbol

ACADVL

contributors: mct - updated : 02-01-2023

HGNC name	acyl-Coenzyme A dehydrogenase, very long chain
HGNC id	92

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	VLCADD VLCAD deficiency presenting a severe childhood form
Location	17p13.1      Physical location : 7.123.152 - 7.128.584
Synonym name	very-long-chain specific acyl-CoA dehydrogenase, mitochondrial
Synonym symbol(s)	LCACD, VLCAD, ACAD6
EC.number	1.13.99.13/1.3.8.9

DNA

TYPE	functioning gene
SPECIAL FEATURE	head to head
text	head to head with DLG4
STRUCTURE	8.14 kb     20 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Binding site
text structure	AP-2 binding site regulating the promoter and a 15 bp DNA motif
	bidirectonal promoter with DLG4

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000018 20 - 2184 NP_000009 70.4 655 - 1995 7668252 NM_001033859 19 - 2118 NP_001029031 - 633 - 1995 7668252 NM_001270447 21 - 2227 NP_001257376 - 678 - 1995 7668252 NM_001270448 19 - 2259 NP_001257377 - 579 - 1995 7668252

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 Cardiovascular heart           vessel         Digestive liver       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial sensory visual photoreceptor layer   Muscular striatum cardiac

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

Text	developing kidney

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

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

mono polymer

homomer , dimer

isoforms

Precursor

HOMOLOGY

interspecies

ortholog to murine Acadvl

Homologene

FAMILY

acyl-CoA dehydrogenase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,inner
	intracellular,cytoplasm,organelle,mitochondria,matrix
	intracellular,cytoplasm,organelle,membrane
	intracellular,nucleus,nucleoplasm

basic FUNCTION	acyl-CoA dehydrogenase, very long chain 14 to 20C, first step of the fatty acid beta-oxidation
	transferring an electron to ETF
	importance of ACADVL in Acute myeloid leukemia (AML) cell biology

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

electron transport

PATHWAY

metabolism

energetic , lipid/lipoprotein

signaling

a component

INTERACTION

DNA

RNA

small molecule	cofactor, nucleotide,
	FAD+

protein

cell & other

REGULATION

activated by

activator protein 2 (TAFP2A)

ASSOCIATED DISORDERS

corresponding disease(s)

VLCADD

related resource

MITOP database

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   in recurrent pregnancy loss

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS