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FLASH GENE

Symbol

HMGCL

contributors: mct - updated : 22-03-2017

HGNC name	3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase (hydroxymethylglutaricaciduria)
HGNC id	5005

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

text	two alternative spliced variants, one with skipping of exons 5 and 6

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000191 9 - 1617 NP_000182 - 325 - 2012 21952825 NM_001166059 7 - 1412 NP_001159531 - 254 - 2012 21952825 deletions of exons 5 and 6

EXPRESSION

Type

widely

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     highly Homo sapiens   intestine small intestine duodenum     Homo sapiens   liver       highly Homo sapiens Reproductive female system uterus cervix   highly Urinary bladder       highly   kidney       lowly Homo sapiens

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

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

contains 8 cysteines, but it lacks the C-terminal cysteine implicated in thiol/disulfide exchange

mono polymer

homomer , dimer

HOMOLOGY

interspecies	ortholog to murine Hmgcl
	ortholog to rattus Hmgcl

Homologene

FAMILY

HMG-CoA lyase family

CATEGORY

enzyme

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

basic FUNCTION	3-hydroxy-3-methylglutaryl-CoA lyase, branched chain, last enzyme of ketogenesis from fatty acids
	also leucine catabolism
	mitochondrial and peroxisomal matrix enzyme
	catalyzes formation of acetyl-CoA and acetoacetate in a reaction that requires divalent cation and is stimulated by sulfhydryl protective reagents
	catalyzes a cation-dependent cleavage of substrate into acetyl-CoA and acetoacetate

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

aminoacid , lipid/lipoprotein

signaling

final step of ketogenesis and leucine catabolism

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

HMGCLD

related resource

MITOP database

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

lethal in HMGCL-deficient mice