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FLASH GENE

Symbol

GAA

contributors: mct - updated : 08-03-2011

HGNC name	glucosidase, alpha; acid (Pompe disease, glycogen storage disease type II)
HGNC id	4065

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_000152 20 - 3782 105.3 952 - 2008 18458862 NM_001079803 21 - 3597 105.3 952 - 2008 18458862 NM_001079804 20 - 3517 105.3 952 - 2008 18458862

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   liver         Lymphoid/Immune spleen       highly Reproductive female system placenta     highly Respiratory lung       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective         Muscular striatum cardiac     Muscular striatum skeletal

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic leukocyte

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

P-type (trefoil) domain

HOMOLOGY

Homologene

FAMILY

glycosyl hydrolase 31 family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,organelle,endosome
	intracellular,cytoplasm,organelle,lysosome

basic FUNCTION	catalyzing the hydrolysis of alpha 4 and alpha 1-6 glucosidic linkages of glycogen
	playing an essential role for the degradation of glycogen to glucose in lysosomes

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

carbohydrate

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

Other

targeted to the lysosome by M6P receptor mediated pathway

ASSOCIATED DISORDERS

corresponding disease(s)

GSD2

related resource

Acidalpha-glucosidase

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS