MGP Database

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MGP001431

Ontology/Pathway Information

Entrez Gene ID3073
Gene Namehexosaminidase A (alpha polypeptide)
Gene Symbol HEXA
SpeciesHomo sapiens
Gene Ontology (GO Annotations)
GO IDSourceTypeDescription
GO:0070062 IDA:UniProtKBCextracellular vesicular exosome
GO:0043202 TAS:ReactomeClysosomal lumen
GO:0016020 IDA:UniProtKBCmembrane
GO:0004563 IEA:UniProtKB-ECFbeta-N-acetylhexosaminidase activity
GO:0046982 IDA:MGIFprotein heterodimerization activity
GO:0005975 TAS:ReactomePcarbohydrate metabolic process
GO:0030207 TAS:ReactomePchondroitin sulfate catabolic process
GO:0030204 TAS:ReactomePchondroitin sulfate metabolic process
GO:0030203 TAS:ReactomePglycosaminoglycan metabolic process
GO:0006687 TAS:ReactomePglycosphingolipid metabolic process
GO:0030214 TAS:ReactomePhyaluronan catabolic process
GO:0030212 TAS:ReactomePhyaluronan metabolic process
GO:0042340 TAS:ReactomePkeratan sulfate catabolic process
GO:0042339 TAS:ReactomePkeratan sulfate metabolic process
GO:0044281 TAS:ReactomePsmall molecule metabolic process
GO:0006665 TAS:ReactomePsphingolipid metabolic process
REACTOME Pathway Links
REACTOME Pathway IDDescription
REACT_121206Chondroitin sulfate/dermatan sulfate metabolism
REACT_120888CS/DS degradation
REACT_268678Defective B3GAT3 causes JDSSDHD
REACT_268431Defective B4GALT1 causes B4GALT1-CDG (CDG-2d)
REACT_268749Defective B4GALT7 causes EDS, progeroid type
REACT_267917Defective CHST14 causes EDS, musculocontractural type
REACT_267648Defective CHST3 causes SEDCJD
REACT_268786Defective CHST6 causes MCDC1
REACT_268113Defective CHSY1 causes TPBS
REACT_267942Defective EXT1 causes exostoses 1, TRPS2 and CHDS
REACT_267741Defective EXT2 causes exostoses 2
REACT_268843Defective PAPSS2 causes SEMD-PA
REACT_268059Defective SLC26A2 causes chondrodysplasias
REACT_116125Disease
REACT_268624Diseases associated with glycosaminoglycan metabolism
REACT_268324Diseases of glycosylation
REACT_264090Glycogen storage diseases
REACT_121315Glycosaminoglycan metabolism
REACT_116105Glycosphingolipid metabolism
REACT_121083Hyaluronan metabolism
REACT_120996Hyaluronan uptake and degradation
REACT_121313Keratan sulfate degradation
REACT_121288Keratan sulfate/keratin metabolism
REACT_111217Metabolism
REACT_474Metabolism of carbohydrates
REACT_22258Metabolism of lipids and lipoproteins
REACT_147857MPS I - Hurler syndrome
REACT_147734MPS II - Hunter syndrome
REACT_147753MPS IIIA - Sanfilippo syndrome A
REACT_147788MPS IIIB - Sanfilippo syndrome B
REACT_147860MPS IIIC - Sanfilippo syndrome C
REACT_147749MPS IIID - Sanfilippo syndrome D
REACT_147825MPS IV - Morquio syndrome A
REACT_147798MPS IV - Morquio syndrome B
REACT_147739MPS IX - Natowicz syndrome
REACT_147759MPS VII - Sly syndrome
REACT_147719MPS VI - Maroteaux-Lamy syndrome
REACT_147853Mucopolysaccharidoses
REACT_264430Myoclonic epilepsy of Lafora
REACT_19323Sphingolipid metabolism
SMP Pathway Links
SMP IDDescription
SMP00045Amino Sugar Metabolism
SMP00534G(M2)-Gangliosidosis: Variant B, Tay-sachs disease
SMP00240Salla Disease/Infantile Sialic Acid Storage Disease
SMP00216Sialuria or French Type Sialuria
SMP00217Sjogren Larsson Syndrome
SMP00390Tay-Sachs Disease
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