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 11 - 20 of 55 in total
DO ID Disease Name Source
DOID:11832 visual epilepsy
DOID:12377 spinal muscular atrophy
DOID:1289 neurodegenerative disease
DOID:13174 dissociated nystagmus
DOID:13709 premature ejaculation
DOID:1432 blindness
DOID:1520 colon carcinoma
DOID:1826 epilepsy
DOID:1875 impotence
DOID:219 colon cancer
The Human Phenotype Ontology
Displaying entries 41 - 50 of 77 in total
HPO ID HPO Term
HP:0002120 Cerebral cortical atrophy
HP:0002240 Hepatomegaly
HP:0002267 Exaggerated startle response
HP:0002311 Incoordination
HP:0002376 Developmental regression
HP:0002380 Fasciculations
HP:0002460 Distal muscle weakness
HP:0002493 Upper motor neuron dysfunction
HP:0002574 Episodic abdominal pain
HP:0003121 Limb joint contracture
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