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FLASH GENE

Symbol

NAGA

contributors: - updated : 07-11-2006

HGNC name	N-acetylgalactosaminidase, alpha-
HGNC id	7631

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	NAGA NAGA deficiency SCHND1 Schindler disease type 1
Location	22q13.2      Physical location : 42.454.338 - 42.466.846
Synonym name	acetylgalactosaminidase, alpha-N- (alpha-galactosidase B)
Synonym symbol(s)	GALB, D22S674, alphaGALNAC
EC.number	3.2.1.49

DNA

TYPE	functioning gene
STRUCTURE	12.00 kb     9 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed p.AGB3 - - 2200 - - - Wang p.AGB3.5 - - 3600 - - - Wang

EXPRESSION

Type

widely

constitutive of

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       Endocrine parathyroid       highly Nervous brain         Reproductive female system placenta     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone     highly Epithelial barrier/lining endothelium     Nervous central       Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol Cardiovascular endothelial cell Nervous neuron

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

17 AAs signal peptide, six N glycosylation sites

isoforms

Precursor

HOMOLOGY

Homologene

FAMILY

glycosyl hydrolase 27 family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,lysosome

basic FUNCTION

catalyzing the degradation of alpha-N-acetylgalactosaminyl-containing glycoconjugates

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

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)

NAGA , SCHND1

related resource

Schindlerdisease

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS