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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 Ensembl 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 cattle; 1 dog; 1 chicken; 1 zebrafish

HCOP human homology predictions: HEXA
Protein SuperFamily: beta-hexosaminidase, subunit alpha/subunit beta, eukaryotic type
Gene Tree: Hexa

Human
homologs
HEXA, hexosaminidase A (alpha polypeptide)
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 3073
neXtProt AC: NX_P06865

Human Synonyms: TSD

Human Chr (Location): 15q24.1; chr15:72343437-72376179 (-)  GRCh38.p2

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 in Mice Using Hexa (1)    Mutations Annotated to Human Diseases (3)   
Interactions
Hexa interacts with 43 markers (Mir29a, Mir29b-1, Mir29b-2, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (4 records)
Data Summary: Results (133)    Tissues (103)    Images (9)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 106
Western blot 2
RT-PCR 25
cDNA source data(134)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase LOC100127787 ; ZFIN hexa    NEW 
Molecular
reagents
All nucleic(157) Genomic(17) cDNA(137) 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 Phenotyping Consortium Status Hexa
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000025232 Ensembl Gene Model | MGI Sequence Detail 25439 C57BL/6J ±  kb
transcript ENSMUST00000026262 Ensembl | MGI Sequence Detail 1865 Not Applicable 
polypeptide ENSMUSP00000026262 Ensembl | MGI Sequence Detail 528 Not Applicable 

For the selected sequences
All sequences(74) RefSeq(3) UniProt(9)
Polymorphisms
RFLP(3) : SNPs within 2kb(159 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR025705 Beta-hexosaminidase
InterPro IPR029019 Beta-hexosaminidase, eukaryotic type, N-terminal
InterPro IPR029018 Chitobiase/beta-hexosaminidase domain 2-like
InterPro IPR013781 Glycoside hydrolase, catalytic domain
InterPro IPR015883 Glycoside hydrolase family 20, catalytic domain
InterPro IPR017853 Glycoside hydrolase superfamily
Protein Ontology PR:000008524 beta-hexosaminidase subunit alpha
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(75)
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
08/25/2015
MGI 6.0
The Jackson Laboratory