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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

DNA

TYPE	functioning gene
STRUCTURE	18.32 kb     20 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Binding site   silencer   transcription factor
text structure	transcriptional control elements in the first intron in particular a silencer responsive to C21orf33 and YY1

MAPPING

cloned

Y

linked

status

confirmed

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