Entity Details

Primary name HEXA_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP06865
EntryNameHEXA_HUMAN
FullNameBeta-hexosaminidase subunit alpha
TaxID9606
Evidenceevidence at protein level
Length529
SequenceStatuscomplete
DateCreated1988-01-01
DateModified2021-06-02

Ontological Relatives

GenesHEXA

GO terms

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GOName
GO:0004563 beta-N-acetylhexosaminidase activity
GO:0005829 cytosol
GO:0005975 carbohydrate metabolic process
GO:0006024 glycosaminoglycan biosynthetic process
GO:0006687 glycosphingolipid metabolic process
GO:0006689 ganglioside catabolic process
GO:0008375 acetylglucosaminyltransferase activity
GO:0016020 membrane
GO:0030207 chondroitin sulfate catabolic process
GO:0030214 hyaluronan catabolic process
GO:0042340 keratan sulfate catabolic process
GO:0042582 azurophil granule
GO:0043202 lysosomal lumen
GO:0043231 intracellular membrane-bounded organelle
GO:0046982 protein heterodimerization activity
GO:0070062 extracellular exosome
GO:0102148 N-acetyl-beta-D-galactosaminidase activity

Subcellular Location

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Subcellular Location
Lysosome

Domains

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DomainNameCategoryType
IPR015883 Glycoside hydrolase family 20, catalytic domainDomainDomain
IPR017853 Glycoside hydrolase superfamilyFamilyHomologous superfamily
IPR025705 Beta-hexosaminidaseFamilyFamily
IPR029018 Beta-hexosaminidase-like, domain 2FamilyHomologous superfamily
IPR029019 Beta-hexosaminidase, eukaryotic type, N-terminalDomainDomain

Diseases

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Disease IDSourceNameDescription
272800 OMIMGM2-gangliosidosis 1 (GM2G1)An autosomal recessive lysosomal storage disease marked by the accumulation of GM2 gangliosides in the neuronal cells. It is characterized by GM2 gangliosides accumulation in the absence of HEXA activity, leading to neurodegeneration and, in the infantile form, death in early childhood. It exists in several forms: infantile (most common and most severe), juvenile and adult (late-onset). The disease is caused by variants affecting the gene represented in this entry.