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FLASH GENE

Symbol

HIBCH

contributors: KTN/npt - updated : 18/09/2008

HGNC name	3-hydroxyisobutyryl-Coenzyme A hydrolase
HGNC id	4908

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	HIBCHD 3-hydroxyisobutyryl-Coenzyme A hydrolase deficiency
Location	2q32.2      Physical location : 191.069.360 - 191.184.771
Synonym name	HIB-CoA hydrolase
Synonym symbol(s)	HIBYL-COA-H
EC.number	3.1.2.4

DNA

TYPE	functioning gene
STRUCTURE	115.20 kb     14 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 14 splicing 1744 43 386 - Hawes variant 2 13 splicing 1710 37.9 338 - Hawes

EXPRESSION

Type

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 small intestine         liver         Lymphoid/Immune thymus         Nervous brain           spinal cord         Reproductive female system ovary

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

mono polymer

homomer , hexamer

HOMOLOGY

interspecies	homolog to dog HIBCH (90.8 pc)
	homolog to chimpanzee HIBCH (99.7 pc)
	homolog to rattus Hibch (79.4 pc)
	homolog to murine Hibch (82.1 pc)
	homolog to chicken HIBCH (70.9 pc)

Homologene

FAMILY

enoyl-coa hydratase/isomerase family

CATEGORY

enzyme

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

basic FUNCTION	hydrolyzing 3-hydroxyisobutyryl-CoA (HIBYL-CoA), a saline catabolite and 3-hydroxypropanoyl-CoA
	could be an isobutyryl-CoA dehydrogenase functioning in valine catabolism

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

aminoacid

signaling

L-valine catabolism

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

HIBCHD

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS