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FLASH GENE

Symbol

HADH

contributors: mct - updated : 14-02-2013

HGNC name	hydroxyacyl-Coenzyme A dehydrogenase
HGNC id	4799

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	HADHD 3-hydroxyacyl-Coenzyme A dehydrogenase deficiency HHF4 hyperinsulinemic hypoglycemia, familial, 4
Location	4q25      Physical location : 108.910.869 - 108.956.330
Synonym name	L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain
Synonym symbol(s)	SCHAD, HADHSC, HADH1, HAD, HHF4, M/SCHAD, MGC8392
EC.number	1.1.1.35

DNA

TYPE	functioning gene
STRUCTURE	45.46 kb     9 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001184705 9 - 2037 NP_001171634 - 331 - 1998 9716664 NM_005327 8 - 1986 NP_005318 - 314 - 1998 9716664

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 intestine       highly Endocrine neuroendocrine pituitary     highly Nervous brain         Reproductive ovary         Urinary kidney

tissue

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

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

Homologene

FAMILY

3-hydroxyacyl-Coenzyme A dehydrogenase family

CATEGORY

enzyme

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

basic FUNCTION	1-3-hydroxyacyl-CoA dehydrogenase, highest with medium chain fatty acids
	participating in mitochondrial fatty acid oxidation
	playing an essential role in the mitochondrial beta-oxidation of short chain fatty acids
	involved in the penultimate step of mitochondrial fatty acid oxidation

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

energetic , lipid/lipoprotein

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	interactions between HADH and GLUD1
	associates with a protein super-complex integrating multiple metabolic pathways

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

HADHD , HHF4

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       loss of function HADH deficiency causes hyperinsulinism by activation of GLUD1 via loss of inhibitory regulation of GLUD1 by HADH

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

hadh(-/-) mice had reduced levels of plasma glucose and elevated plasma insulin levels and were hypersensitive to oral AA with decrease of glucose level and elevation of insulin