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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; chr15:72343437-72376179 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human HEXA
Mutations,
alleles, and
phenotypes
All mutations/alleles(23) : Gene trapped(18) Targeted(5)
Incidental mutations (data from Mutagenetix , APF )
 
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)   
Interactions
Hexa interacts with 43 markers (Mir29a, Mir29b-1, Mir29b-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (34 annotations)
Process adult walking behavior, carbohydrate metabolic process, ...
Component extracellular vesicular exosome, lysosome, ...
Function beta-N-acetylhexosaminidase activity, hydrolase 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 TypeResults
RNA in situ 106
Western blot 2
RT-PCR 25
cDNA source data(134)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(157) Genomic(17) cDNA(137) Primer pair(2) Other(1)
Microarray probesets(4)
Other database
links
Ensembl Gene ModelENSMUSG00000025232 (Evidence)
Entrez Gene15211 (Evidence)
UniGene2284
DFCITC1573515
NIA Mouse Gene IndexU010580
EC3.2.1.52
Consensus CDS ProjectCCDS23250.1
International Mouse Knockout Project StatusHexa
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 15211 NCBI Gene Model | MGI Sequence Detail 25439 C57BL/6J ±  kb
transcript NM_010421 RefSeq | MGI Sequence Detail 1865 C57BL/6 
polypeptide P29416 UniProt | EBI | MGI Sequence Detail 528 Not Applicable 

For the selected sequences
All sequences(73) RefSeq(3) UniProt(9)
Polymorphisms RFLP(3) : SNPs within 2kb(159 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
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
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:195995 Redshaw N, et al., TGF-beta/Smad2/3 signaling directly regulates several miRNAs in mouse ES cells and early embryos. PLoS One. 2013;8(1):e55186
All references(78)
Disease annotation references (3)
Other
accession IDs
MGD-MRK-10696, MGD-MRK-10697

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/23/2014
MGI 5.19
The Jackson Laboratory