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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

Corresponding disease	GLAD diffuse angiokeratoderma, Fabry disease, GLA deficiency
Location	Xq22.1      Physical location : 100.652.778 - 100.663.001
Synonym name	alpha-D- galactoside galactohydrolase
	alpha-galactosidase A
	melibiase
	agalsidase
Synonym symbol(s)	GALA, AGAL
EC.number	3.2.1.22

DNA

TYPE	functioning gene
STRUCTURE	10.12 kb     7 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

Y

status

confirmed

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 - 2023 37254000 NM_001406747 8 - 1441 NP_001393676 - 470 - 2023 37254000 NM_001406748 6 - 1164 NP_001393677 - 362 - 2023 37254000 NM_001406749 4 - 1510 NP_001393678 - 252 - 2023 37254000

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