Gene

hexb

ID
ZDB-GENE-030131-2333
Name
hexosaminidase B (beta polypeptide)
Symbol
hexb Nomenclature History
Previous Names
  • hexa
  • fc04h11
  • si:dkey-35i22.2
  • wu:fc04h11
  • wu:fv09f06
Type
protein_coding_gene
Location
Chr: 5 Mapping Details/Browsers
Description
Predicted to have N-acetyl-beta-D-galactosaminidase activity and beta-N-acetylhexosaminidase activity. Involved in angiogenesis. Used to study lysosomal storage disease. Human ortholog(s) of this gene implicated in Sandhoff disease and spinal muscular atrophy. Orthologous to human HEXB (hexosaminidase subunit beta).
Genome Resources
Note
None
Expression
All Expression Data
3 figures from 3 publications
Cross-Species Comparison
High Throughput Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
4 figures from 2 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With hexb Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Sandhoff disease Alliance Sandhoff disease, infantile, juvenile, and adult forms 268800
Associated With hexb Via Experimental Models
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR015883 Glycoside hydrolase family 20, catalytic domain
Domain IPR029019 Beta-hexosaminidase, eukaryotic type, N-terminal
Family IPR025705 Beta-hexosaminidase
Homologous_superfamily IPR017853 Glycoside hydrolase superfamily
Homologous_superfamily IPR029018 Beta-hexosaminidase-like, domain 2
Domain Details Per Protein
Protein Length Beta-hexosaminidase Beta-hexosaminidase, eukaryotic type, N-terminal Beta-hexosaminidase-like, domain 2 Glycoside hydrolase family 20, catalytic domain Glycoside hydrolase superfamily
UniProtKB:F1QUU0 464
UniProtKB:A2BHD9 192
UniProtKB:A3KNW3 464
UniProtKB:A2BHD8 541
UniProtKB:F1QTE2 279
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Orthology Note
Woods, et al. (2005. Genome Res. 15:1307-1314.) reported this gene as hexa with orthology to human HEXA based on amino acid similarity. Subsequent analysis suggests this gene is hexb with orthology to human HEXB and mouse Hexb based on amino acid similarity and conserved location.
Citations