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FLASH GENE

Symbol

ETFB

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

HGNC name	electron-transfer-flavoprotein, beta polypeptide
HGNC id	3482

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ETFB glutaric aciduria IIB, early onset
Location	19q13.33      Physical location : 51.848.409 - 51.869.672
Synonym name	electron transfer flavoprotein beta subunit
	beta-ETF
Synonym symbol(s)	MADD, FP585

DNA

TYPE	functioning gene
STRUCTURE	9.70 kb     5 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 1 - - 933 - 255 - Toogood variant 2 - - 1318 - 316 - Toogood

EXPRESSION

Type

widely

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 intestine large intestine colon   highly Skin/Tegument skin       highly Visual eye       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone     highly Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

conjugated

FlavoP

HOMOLOGY

Homologene

FAMILY

ETF beta-subunit/FIXA family

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria
	intracellular,cytoplasm,organelle,membrane

basic FUNCTION

shuttles electrons between primary flavoprotein dehydrogenases involved in mitochondrial fatty acid and amino acid catabolism and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

heterodimer of an alpha and a beta subunit

INTERACTION

DNA

RNA

small molecule	cofactor,
	binds a FAD per dimer,
	binds a AMP per subunit

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

ETFB

related resource

MITOP database

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS