Hexa
Gene Detail

Symbol Name ID

Hexa hexosaminidase A MGI:96073

Synonyms

Hex-1

Feature Type

protein coding gene

Genetic Map

Chromosome 9

32.02 cM
Detailed Genetic Map ± 1 cM


Mapping data(7)

Sequence Map

Chr9:59539667-59565105 bp, + strand From NCBI annotation of GRCm38   25439 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:20146  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: beta-hexosaminidase, subunit alpha/subunit beta, eukaryotic type
Gene Tree: Hexa

Human homologs

Human Homolog		HEXA, hexosaminidase A (alpha polypeptide)
NCBI Gene ID		3073
neXtProt AC		NX_P06865
Human Synonyms		TSD
Human Chr (Location)		15q24.1; chr15:72635778-72668520 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human HEXA

Alleles and phenotypes

All alleles(23) : Targeted(5) Gene trapped(18)
 

Homozygous mutants accumulate excess amounts of GM2 ganglioside that is stored in neurons as membranous cytoplasmic bodies typically seen in the neurons of Tay-Sachs disease patients. However, the mutant mice appear to be functionally normal.

 
Human Diseases Modeled Using Mouse Hexa (1)    Alleles Annotated to Human Diseases(3)   

Gene Ontology (GO) classifications

All GO classifications: (32 annotations)

Process	adult walking behavior, carbohydrate metabolic process, ...
Component	lysosome, membrane
Function	beta-N-acetylhexosaminidase activity, catalytic activity, ...

External Resources: FuncBase

Expression

Literature Summary: (4 records)
Data Summary: Results (133)    Tissues (102)    Images (9)
Theiler Stages: 20, 21, 22, 23, 24, 26, 28

Assay Type	Results
RNA in situ	106
Western blot	2
RT-PCR	25

cDNA source data(133)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(156) Genomic(17) cDNA(136) Primer pair(2) Other(1)
Microarray probesets(4)

Other database links

Ensembl Gene Model	ENSMUSG00000025232 (Evidence)
Entrez Gene	15211 (Evidence)
UniGene	2284
DFCI	TC1573515
NIA Mouse Gene Index	U010580
EC	3.2.1.52
Consensus CDS Project	CCDS23250.1
International Mouse Knockout Project Status	Hexa

Sequences

Length	Strain/Species
genomic	15211	NCBI Gene Model | MGI Sequence Detail	25439	C57BL/6J
transcript	NM_010421	RefSeq | MGI Sequence Detail	1865	C57BL/6
polypeptide	P29416	UniProt | EBI | MGI Sequence Detail	528	Not Applicable

All sequences(72) RefSeq(2) UniProt(9)

Polymorphisms

RFLP(3) : SNPs(130 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR025705	Beta-hexosaminidase subunit alpha/beta
InterPro	IPR013781	Glycoside hydrolase, catalytic domain
InterPro	IPR015883	Glycoside hydrolase family 20, catalytic core
InterPro	IPR017853	Glycoside hydrolase, superfamily
InterPro	IPR015882	Glycosyl hydrolase family 20, domain 2
Protein Ontology	PR:000008524	beta-hexosaminidase subunit alpha

Graphical View of Protein Domain Structure

References

(Earliest) J:5526 Gilbert F, et al., Tay-Sachs' and Sandhoff's diseases: the assignment of genes for hexosaminidase A and B to individual human chromosomes. Proc Natl Acad Sci U S A. 1975 Jan;72(1):263-7
(Latest) J:185446 Gushulak L, et al., Hyaluronidase 1 and beta-hexosaminidase have redundant functions in hyaluronan and chondroitin sulfate degradation. J Biol Chem. 2012 May 11;287(20):16689-97
All references(76)

Other accession IDs

MGD-MRK-10696, MGD-MRK-10697