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FLASH GENE

Symbol

HADHA

contributors: mct/npt - updated : 07-02-2018

HGNC name	hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit
HGNC id	4801

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	LCHAD long chain hydroxyacyl-CoA dehydrogenase deficiency
Location	2p23.3      Physical location : 26.413.504 - 26.467.594
Synonym name	78 kDa gastrin-binding protein
	3-ketoacyl-Coenzyme A (CoA) thiolase, alpha subunit
	3-oxoacyl-CoA thiolase
	mitochondrial trifunctional enzyme, alpha subunit
Synonym symbol(s)	TFPA, MTPA, GBP, GBP, HADH, MGC1728, TP-ALPHA
EC.number	4.2.1.17, 1.1.1.35

DNA

TYPE	functioning gene
SPECIAL FEATURE
text	linked to HADHB in head to head arrangement on opposite strand with a common 350 bp flanking region
STRUCTURE	54.10 kb     20 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 NM_000182 20 - 3048 NP_000173 59 763 - Taylor (2009)

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 Nervous spinal cord anterior horn

tissue

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

cells

System Cell Pubmed Species Stage Rna symbol Respiratory epithelial cell

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

Text	developing brain and neural retina, metanephros, gonads, gut

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a subunit hydratase domain
	linker domain
	dehydrogenase domain

mono polymer

heteromer , hexamer

HOMOLOGY

Homologene

FAMILY

enoyl-CoA hydratase/isomerase family

CATEGORY

enzyme

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

basic FUNCTION	fatty acid beta-oxidation trifunctional enzyme, alpha subunit harboring the long chain 2-enoyl-CoA hydratase and the long chain 3-hydroxyacyl-CoA dehydrogenase domains, beta subunit harboring the long chain ICoA thiolase activity
	specific for the resynthesis of Cardiolipin from HADHA and acyl coenzyme A (Taylor 2009)
	mitochondrial monolysocardiolipin acyltransferase involved in the remodeling of cardiolipin (Taylor 2009)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

lipid/lipoprotein

signaling

	fatty acid beta-oxidation cycle, step 2
	fatty acid beta-oxidation cycle, step 3

a component

Mitochondrial trifunctional protein (MTP) is a hetero-octamer composed of four alpha- and four beta-subunits (HADHA, HADHB) that catalyzes the final three steps of mitochondrial beta-oxidation of long chain fatty acids

INTERACTION

DNA

RNA

small molecule

protein

gastrin binding

cell & other

REGULATION

Other

replication dependent

ASSOCIATED DISORDERS

corresponding disease(s)

LCHAD

related resource

MITOP database

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target	might serve as a potential therapeutic target in BTHS patients (Taylor 2009)

ANIMAL & CELL MODELS