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. 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
- Comparative Information
-
- All Expression Data
- 4 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Sandhoff disease | Alliance | Sandhoff disease, infantile, juvenile, and adult forms | 268800 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| lysosomal storage disease | hexbre04/re04 | standard conditions | Kuil et al., 2019 |
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:A2BHD8
|
541 | |||||
|
UniProtKB:F1QUU0
|
464 | |||||
|
UniProtKB:A0A8M3AZK9
|
543 | |||||
|
UniProtKB:A0A8M2BJ34
|
542 | |||||
|
UniProtKB:A0A8M3B2G3
|
544 |
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance
- Gene Tree
- Ensembl
- 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.