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FLASH GENE

Symbol

HEXA

contributors: mct/npt - updated : 22-01-2010

HGNC name	hexosaminidase A (alpha polypeptide)
HGNC id	4878

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type	ubiquitous

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 Digestive intestine large intestine colon   moderately   intestine small intestine     predominantly   pancreas exocrine       moderately   stomach       highly Lymphoid/Immune spleen       highly Nervous brain       highly Reproductive female system breast mammary gland   moderately   female system placenta     highly   female system ovary     highly Respiratory lung       moderately Skin/Tegument skin       highly Urinary kidney       moderately Visual eye       moderately

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow       Connective bone       Epithelial         Nervous central       Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron Visual ganglion cell

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

conjugated

GlycoP

mono polymer

heteromer , dimer , trimer

isoforms

Precursor

zymogen

HOMOLOGY

interspecies	ortholog to murine Hexa
	ortholog to rattus Hexa
	homolog to drosophila Hexo2

Homologene

FAMILY

glycosyl hydrolase 20 family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,endoplasmic reticulum ,rough,smooth
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,organelle,endosome
	intracellular,cytoplasm,organelle,lysosome

basic FUNCTION	catalyzing the degradation of glycosphingolipids with terminal alpha-galactosyl residues in most non neuronal tissues and in body fluids
	hydrolyzing ganglioside GM2, glycoproteins, glycosamino-glycans, glycolipids

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

carbohydrate , lipid/lipoprotein

signaling

a component	involved in heterotrimer
	involved in homodimer

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

Other

targeted to the lysosome by M6P receptor mediated pathway

ASSOCIATED DISORDERS

corresponding disease(s)

TSD

related resource

Hexosaminidase A, Tay-Sachs Disease Tay Sachs Disease at GeneDis

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS