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FLASH GENE

Symbol

ETFA

contributors: npt/ - updated : 24-07-2006

HGNC name	electron-transfer-flavoprotein, alpha polypeptide
HGNC id	3481

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ETFA glutaric aciduria IIA
Location	15q24.2      Physical location : 76.508.628 - 76.603.810
Synonym name	glutaric aciduria II
	alpha-ETF
Synonym symbol(s)	EMA, GA2, MADD

DNA

TYPE	functioning gene
STRUCTURE	95.18 kb     12 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

text	an alternatively spliced form lacking exon 2 (Olsen et al. (2003))

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 1 - - 1369 35 333 - - variant 2 - - 1222 29.9 284 - -

EXPRESSION

Type	ubiquitous

constitutive of

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 liver       highly Lymphoid/Immune spleen       highly   thymus       moderately Reproductive female system uterus cervix   highly   female system breast mammary gland   moderately Urinary bladder       highly   kidney       moderately Visual eye       moderately

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

the N-terminus blocked

conjugated

FlavoP

mono polymer

heteromer , dimer

HOMOLOGY

interspecies	ortholog to murine Etfa
	homolog to zebrafish etfa
	ortholog to rattus etfa

Homologene

FAMILY

ETF alpha-subunit/fixB family

CATEGORY

transport carrier

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

basic FUNCTION	participating in catalyzing the initial step of the mitochondrial fatty acid beta-oxidation
	shuttling electrons between primary flavoprotein dehydrogenases and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase
	serving as a specific electron acceptor for several dehydrogenases, including five acyl-CoA dehydrogenases, glutaryl-CoA and sarcosine dehydrogenase
	transferring the electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (ETF dehydrogenase)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

electron transport

PATHWAY

metabolism

lipid/lipoprotein

signaling

fatty acid beta-oxidation

a component

heterodimer of an alpha and a beta subunit, containing one FAD and one AMP molecule per heterodimer

INTERACTION

DNA

RNA

small molecule	nucleotide,
	FAD (one molecule per dimer)
	AMP (one molecule per dimer)

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

ETFA

related resource

MITOP database

Susceptibility

Variant & Polymorphism SNP	the unstable variant T171I overreprinted in ACADVL deficient patients with mild childhood presentation

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS