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FLASH GENE

Symbol

GLA

contributors: mct/npt - updated : 08-11-2023

HGNC name	galactosidase, alpha
HGNC id	4296

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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,Golgi
	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
	may have a potential independent role in Parkinson disease, in addition to Glucocerebrosidase

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)

GLAD

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       loss of function with cellular accumulation of sphingolipids may lead to podocyturia and renal loss of function with increased cardiovascular morbidity and mortality in affected patients

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