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. Human ortholog(s) of this gene implicated in Tay-Sachs disease. Is expressed in several structures, including axis; lens placode; optic vesicle; polster; and visual system. Orthologous to human HEXA (hexosaminidase subunit alpha).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

7 figures from 2 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

MGC:112084 (15 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 1 Figure 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