Gene

hexa

ID
ZDB-GENE-050417-283
Name
hexosaminidase A (alpha polypeptide)
Symbol
hexa Nomenclature History
Previous Names
  • zgc:112084 (1)
Type
protein_coding_gene
Location
Chr: 25 Mapping Details/Browsers
Description
Predicted to have N-acetyl-beta-D-galactosaminidase activity and beta-N-acetylhexosaminidase activity. Predicted to be involved in carbohydrate metabolic process. Is expressed in several structures, including axis; lens placode; optic vesicle; polster; and visual system. Human ortholog(s) of this gene implicated in Tay-Sachs disease. Orthologous to human HEXA (hexosaminidase subunit alpha).
Genome Resources
Note
None
Expression
All Expression Data
No data available
Cross-Species Comparison
High Throughput Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
Fig. 5 from Berg et al., 2016
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With hexa Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Tay-Sachs disease Alliance GM2-gangliosidosis, several forms 272800
Tay-Sachs disease Alliance Tay-Sachs disease 272800
Tay-Sachs disease Alliance [Hex A pseudodeficiency] 272800
Associated With hexa Via Experimental Models
No data available
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:A7YYC1 532
UniProtKB:F1RDQ5 532
UniProtKB:A0A2R8PV02 532
UniProtKB:Q567F4 532
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
Citations