hexosaminidase subunit beta

Summary
Gene Symbol
  • HEXB
Aliases
  • beta-hexosaminidase subunit beta
Organism
Homo sapiens (human)
External Links
NCBI Gene
3074
HGNC
4879
KEGG Gene ID
hsa:3074
PubChem
3074
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Cytoplasmic vesicle
  • Direct protein sequencing
  • Disease variant
  • Disulfide bond
  • Gangliosidosis
  • Glycoprotein
  • Glycosidase
  • Hydrolase
  • Lipid metabolism
  • Lysosome
  • Neurodegeneration
  • Proteomics identification
  • Reference proteome
  • Signal
  • Zymogen
Proteins
Displaying all 3 entries
UniProt Protein Name
P07686
  • Beta-N-acetylhexosaminidase subunit beta
  • Cervical cancer proto-oncogene 7 protein
  • N-acetyl-beta-glucosaminidase subunit beta
A0A024RAJ6
Q5URX0
  • Beta-N-acetylhexosaminidase subunit beta
  • N-acetyl-beta-glucosaminidase subunit beta
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
Human Protein Atlas
ENSG00000049860

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

KEGG BRITE Database
Orthology
K12373
Name
hexosaminidase [EC:3.2.1.52]
References
Reactions
Displaying all 2 entries
KEGG Reaction Enzyme Acceptor Product
R05963
R06004
Disease
Disease Ontology
Displaying entries 21 - 30 of 55 in total
DO ID Disease Name Source
DOID:230 lateral sclerosis
DOID:231 motor neuron disease
DOID:235 colonic benign neoplasm
DOID:2368 gangliosidosis
DOID:2841 asthma
DOID:285 hairy cell leukemia
DOID:3021 acute kidney failure
DOID:3070 high grade glioma
DOID:3071 gliosarcoma
DOID:308 early myoclonic encephalopathy
The Human Phenotype Ontology
Displaying entries 11 - 20 of 77 in total
HPO ID HPO Term
HP:0000975 Hyperhidrosis
HP:0001250 Seizure
HP:0001251 Ataxia
HP:0001252 Hypotonia
HP:0001257 Spasticity
HP:0001260 Dysarthria
HP:0001268 Mental deterioration
HP:0001272 Cerebellar atrophy
HP:0001278 Orthostatic hypotension
HP:0001288 Gait disturbance
Displaying all 4 entries
Disease ID Disease Name
ORPHA:309155
  • Sandhoff disease, infantile form
OMIM:268800
  • Sandhoff disease
ORPHA:309162
  • Sandhoff disease, juvenile form
ORPHA:309169
  • Sandhoff disease, adult form
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP000083
Gene Name
hexosaminidase B (beta polypeptide)

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024