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FLASH GENE

Symbol

HADHB

contributors: mct - updated : 19-02-2018

HGNC name	hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit
HGNC id	4803

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	MTPD mitochondrial trifunctional protein deficiency
Location	2p23.3      Physical location : 26.467.615 - 26.513.332
Synonym symbol(s)	TFPB, MSTP029, ECHB, MTPB, TP-BETA
EC.number	2.3.1.16

DNA

TYPE	functioning gene
STRUCTURE	45.72 kb     16 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_001281513 17 - 2279 NP_001268442 - 452 - 1999 10075708 NM_001281512 15 - 2151 NP_001268441 - 459 - 1999 10075708 NM_000183 16 - 2196 NP_000174 - 474 - 1999 10075708

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       highly Digestive liver         Lymphoid/Immune thymus         Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow       Connective bone

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

Homologene

FAMILY

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,inner
	intracellular,cytoplasm,organelle,mitochondria,outer
	intracellular,cytoplasm,organelle,mitochondria,matrix
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
text	ESR2 may be associated with HADHB in mitochondria

basic FUNCTION

fatty acid beta-oxidation trifunctional enzyme, beta subunit, harboring the long chain 3-oxoacyl-CoA thiolase, catalyzing three steps in the beta-oxidation of fatty acids, including the long-chain 3-hydroxyl-CoA dehydrogenase step

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

lipid/lipoprotein

signaling

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	interacting with ELAVL1, REN, PCBP1
	ESR1 interacted with mitochondrial protein HADHB and affected the thiolytic cleavage activity of HADHB in beta-oxidation
	ESR2 plays an inhibitory role in HADHB enzyme activity in the breast cancer cells

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

MTPD

related resource

MITOP database

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS