Species

Homo sapiens

Symbol

HEXB

Name

hexosaminidase subunit beta

Synonyms

beta-hexosaminidase beta-subunit
beta-hexosaminidase subunit beta

Biotype

protein coding gene

Automated Description

Enables acetylglucosaminyltransferase activity; beta-N-acetylhexosaminidase activity; and identical protein binding activity. Involved in ganglioside catabolic process and glycosaminoglycan metabolic process. Located in azurophil granule. Part of beta-N-acetylhexosaminidase complex. Implicated in Sandhoff disease and spinal muscular atrophy.

RGD Description

Hexosaminidase B is the beta subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by separate genes. Both beta-hexosaminidase alpha and beta subunits are members of family 20 of glycosyl hydrolases. Mutations in the alpha or beta subunit genes lead to an accumulation of GM2 ganglioside in neurons and neurodegenerative disorders termed the GM2 gangliosidoses. Beta subunit gene mutations lead to Sandhoff disease (GM2-gangliosidosis type II). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]

Cross References

Additional Information

Literature

Orthology

Gene tree: PANTHER:PTHR22600

Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse

Paralogy

Function - GO Annotations

Show functions with at least one experimental evidence

Pathways

No data available

Phenotypes

Primary Sources

None

Other Sources

BioGRID CRISPR Screen Cell Line Phenotypes

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Disease Associations

Include negative annotationsCases where the expected disease association was NOT found

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No data available

Alleles and Variants

Allele/Variant Symbol	Allele Synonyms	Category	Variant	Variant type	Molecular consequence	Has Disease Annotations	Has Phenotype Annotations
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Transgenic Alleles

Species (carrying the transgene)	Allele symbol	Transgenic construct	Expressed components	Knock-down targets	Regulatory regions	Has Disease Annotations	Has Phenotype Annotations
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Models

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Sequence Feature Viewer

Genome location

Chr5:74640023...74722647 + (82.62 kb)

Assembly version

GRCh38

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Data currently unavailable; sequence viewer under construction

Sequence Details

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Expression

Primary Sources

None

Other Sources

Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

HEXB molecule type	Interactor gene	Interactor species	Interactor molecule type	Detection methods	Source	Reference
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Genetic Interactions

HEXB role	HEXB genetic perturbation	Interactor gene	Interactor species	Interactor role	Interactor genetic perturbation	Interaction type	Phenotype or trait	Source	Reference
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