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FLASH GENE

Symbol

GLA

contributors: mct/npt - updated : 26-04-2012

HGNC name	galactosidase, alpha
HGNC id	4296

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000169 7 - 1418 NP_000160 48.8 429 - Huerva (2008)

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 vessels capillary       Digestive intestine small intestine       Endocrine neuroendocrine pituitary     highly Hearing/Equilibrium ear       highly Nervous brain hindbrain cerebellum     Reproductive female system uterus cervix   highly Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier/lining endothelium     Membrane serous membrane pericardium     Muscular striatum skeletal

cells

System Cell Pubmed Species Stage Rna symbol Muscular myocyte

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a (beta/alpha) 8 domain with the active site and an antiparallel beta domain
	N-linked carbohydrate appears at six sites in the glycoprotein dimer, revealing the basis for lysosomal transport via the mannose-6-phosphate receptor
	melibiase domain

mono polymer

homomer , dimer

HOMOLOGY

interspecies

homolog to murine Gla

Homologene

FAMILY

glycosyl hydrolase 27 family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	extracellular
	intracellular
	intracellular,cytoplasm,organelle,lumen
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,organelle,endosome
	intracellular,cytoplasm,organelle,lysosome

basic FUNCTION	cleaving alpha-galactosyl residues from glycoconjugates
	catalyzes hydrolysis of terminal alpha-d-galactosyl residues of glycoconjugates, predominantly globotriaosylceramide (GL-3), in lysosomes
	is responsible for the breakdown of alpha-galactosides in the lysosome

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

carbohydrate

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

Sortilin, is a novel GLA binding protein, with a predominant intracellular expression but also surface expression in the podocyte

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

GLA

Susceptibility

to sporadic Parkinson disease

Variant & Polymorphism other	a variant (NG_007119.1:g.4488C>G) within the promoter region, increasibng the risk of Parkinson disease

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

animal model suggesting a possibility for enzyme remplacement therapy