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)
Displaying entries 21 - 24 of 24 in total
GO Term Evidence Code PMID
oogenesis
male courtship behavior
neuromuscular process controlling balance
regulation of cell shape
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 1 - 10 of 55 in total
DO ID Disease Name Source
DOID:0060193 amyotrophic lateral sclerosis type 1
DOID:0060194 amyotrophic lateral sclerosis type 2
DOID:0060196 amyotrophic lateral sclerosis type 4
DOID:0060490 Schimke immuno-osseous dysplasia
DOID:0111064 autosomal recessive distal hereditary motor neuronopathy 1
DOID:0111154 postural orthostatic tachycardia syndrome
DOID:11120 psychologic dyspareunia
DOID:11155 hypohidrosis
DOID:11156 anhidrosis
DOID:11771 spontaneous ocular nystagmus
The Human Phenotype Ontology
Displaying entries 51 - 60 of 77 in total
HPO ID HPO Term
HP:0003202 Skeletal muscle atrophy
HP:0003236 Elevated circulating creatine kinase concentration
HP:0003390 Sensory axonal neuropathy
HP:0003394 Muscle spasm
HP:0003429 CNS hypomyelination
HP:0003484 Upper limb muscle weakness
HP:0003593 Infantile onset
HP:0003701 Proximal muscle weakness
HP:0003819 Death in childhood
HP:0004343 Abnormal glycosphingolipid metabolism
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