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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]
HEXB (Hexosaminidase Subunit Beta) is a Protein Coding gene. Diseases associated with HEXB include Sandhoff Disease and Gm2 Gangliosidosis. Among its related pathways are Glycosaminoglycan metabolism and Innate Immune System. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and hydrolase activity, hydrolyzing O-glycosyl compounds. An important paralog of this gene is HEXA.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004553 | hydrolase activity, hydrolyzing O-glycosyl compounds | IEA | -- |
GO:0004563 | beta-N-acetylhexosaminidase activity | IEA,IDA | 8123671 |
GO:0005515 | protein binding | IPI | 16698036 |
GO:0008375 | acetylglucosaminyltransferase activity | IDA | 25645918 |
GO:0016787 | hydrolase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001669 | acrosomal vesicle | IEA | -- |
GO:0005576 | extracellular region | TAS | -- |
GO:0005615 | extracellular space | IEA | -- |
GO:0005764 | lysosome | IEA | -- |
GO:0016020 | membrane | IEA,HDA | 19946888 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Glycosaminoglycan metabolism | ||
2 | Metabolism |
.40
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3 | Innate Immune System |
.61
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4 | Chondroitin sulfate/dermatan sulfate metabolism | ||
5 | Sphingolipid metabolism |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001501 | skeletal system development | IEA | -- |
GO:0005975 | carbohydrate metabolic process | IEA | -- |
GO:0006687 | glycosphingolipid metabolic process | IEA,TAS | -- |
GO:0006689 | ganglioside catabolic process | IEA,IDA | 8123671 |
GO:0006874 | cellular calcium ion homeostasis | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
N-Acetyl-D-glucosamine | Approved, Investigational | Nutra | 0 | |||
Pyrimethamine | Approved, Investigational, Vet_approved | Pharma | Target | DHFR inhibitor, Potent inhibitor of multidrug and toxin extrusion (MATE) transporters; also DHFR and STAT3 inhibitor | 178 | |
Chondroitin sulfate | Approved, Investigational | Nutra | Enzyme, substrate | 0 | ||
Water | Approved | Pharma | 0 | |||
(2R,3R,4S,5R)-2-acetamido-3,4-dihydroxy-5-hydroxymethyl-piperidine | Experimental | Pharma | Target | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
CE(20:2(6Z,9Z)) |
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4201-62-1, 77715-45-8 |
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Chitobiose |
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577-76-4 |
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Ganglioside GA2 (d18:1/12:0) |
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Ganglioside GA2 (d18:1/16:0) |
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Ganglioside GA2 (d18:1/18:0) |
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Compound | Action | Cas Number |
---|---|---|
Flurofamide | Urease inhibitor | 70788-28-2 |
SCH 51344 | Potent MTH1 inhibitor | 171927-40-5 |
WWL 70 | Potent ABHD6 inhibitor | 947669-91-2 |
Compound | Action | Cas Number |
---|---|---|
Flurofamide | 70788-28-2 |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | HEXB 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | HEXB 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | HEXB 30 |
|
||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Mouse (Mus musculus) |
Mammalia | Hexb 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Hexb 30 |
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||
Platypus (Ornithorhynchus anatinus) |
Mammalia | HEXB 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | HEXB 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | HEXB 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | HEXB 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | hexb 30 |
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||
Zebrafish (Danio rerio) |
Actinopterygii | hexa 30 |
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hexb 31 |
|
OneToOne | |||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP010056 30 |
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Fruit Fly (Drosophila melanogaster) |
Insecta | Hexo2 31 32 |
|
ManyToMany | |
Hexo1 31 32 |
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ManyToMany | |||
fdl 31 |
|
ManyToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | hex-1 30 31 |
|
OneToMany | |
T14F9.3 32 |
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Thale Cress (Arabidopsis thaliana) |
eudicotyledons | HEXO1 30 |
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Rice (Oryza sativa) |
Liliopsida | Os05g0115900 30 |
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Os.9285 30 |
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Wheat (Triticum aestivum) |
Liliopsida | Ta.20760 30 |
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Corn (Zea mays) |
Liliopsida | Zm.3467 30 |
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Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.7268 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 05 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
836930 | Likely Pathogenic: Sandhoff disease | 74,715,692(+) |
T/C NM_000521.4(HEXB):c.1082+2T>C |
SPLICE_DONOR | |
841253 | Pathogenic: Sandhoff disease | 74,693,642(+) |
C/CTT NM_000521.4(HEXB):c.451_452dup (p.Leu151fs) |
FRAMESHIFT_VARIANT,FIVE_PRIME_UTR | |
845142 | Uncertain Significance: Sandhoff disease | 74,721,141(+) |
T/C NM_000521.4(HEXB):c.1637T>C (p.Leu546Pro) |
MISSENSE | |
849280 | Pathogenic: Sandhoff disease | 74,715,629(+) |
AGT/TCAAA NM_000521.4(HEXB):c.1021_1023delinsTCAAA (p.Glu342fs) |
FRAMESHIFT | |
851972 | Pathogenic: Sandhoff disease | 74,718,846(+) |
A/AG NM_000521.4(HEXB):c.1294dup (p.Glu432fs) |
FRAMESHIFT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv21716 | CNV | loss | 19812545 |
esv2730312 | CNV | deletion | 23290073 |
esv3570193 | CNV | loss | 25503493 |
esv3605432 | CNV | loss | 21293372 |
esv3605433 | CNV | loss | 21293372 |
esv3605434 | CNV | loss | 21293372 |
esv3605435 | CNV | gain | 21293372 |
nsv1143136 | CNV | tandem duplication | 24896259 |
nsv1152700 | CNV | duplication | 26484159 |
nsv521024 | CNV | loss | 19592680 |
nsv598652 | CNV | loss | 21841781 |
nsv598653 | CNV | loss | 21841781 |
Disorder | Aliases | PubMed IDs |
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sandhoff disease |
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gm2 gangliosidosis |
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gangliosidosis |
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tay-sachs disease |
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lysosomal storage disease |
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