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Hexa Gene Detail
Summary
  • Symbol
    Hexa
  • Name
    hexosaminidase A
  • Synonyms
    Hex-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:96073
    NCBI Gene: 15211
  • Alliance
    genome feature page
  • Transcription Start Sites
    15 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:59446966-59472392 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 9, 32.02 cM
  • Mapping Data
    7 experiments
Strain
Comparison
more
  • SNPs within 2kb
    750 from dbSNP Build 142
  • Strain Annotations
    19
  • RFLP
    3
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_96073
 protein coding gene Chr9:59446823-59472392 (+)
129S1/SvImJ ENSMUSG00200034946
 protein coding gene Chr9:56565683-56591244 (+)
A/J ENSMUSG00195036566
 protein coding gene Chr9:56272842-56298416 (+)
AKR/J ENSMUSG00220024283
 protein coding gene Chr9:56422610-56448184 (+)
BALB/cJ ENSMUSG00180017184
 protein coding gene Chr9:56387599-56413173 (+)
C3H/HeJ ENSMUSG00175019104
 protein coding gene Chr9:56399487-56425062 (+)
C57BL/6NJ ENSMUSG00215018526
 protein coding gene Chr9:56380863-56406432 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0032304
 protein coding gene Chr9:56733797-56758626 (+)
CAST/EiJ ENSTCUG00005020098
 protein coding gene Chr9:56315189-56340952 (+)
CBA/J ENSMUSG00210035602
 protein coding gene Chr9:56504367-56529870 (+)
DBA/2J ENSMUSG00185039043
 protein coding gene Chr9:56526277-56551847 (+)
FVB/NJ ENSMUSG00205027276
 protein coding gene Chr9:56842103-56867674 (+)
JF1/MsJ ENSUMUG00000037283
 protein coding gene Chr9:56544473-56570363 (+)
LP/J ENSMUSG00230037620
 protein coding gene Chr9:56765266-56790827 (+)
NOD/ShiLtJ ENSMUSG00190036878
 protein coding gene Chr9:56596413-56621983 (+)
NZO/HlLtJ ENSMUSG00225026826
 protein coding gene Chr9:56814039-56839632 (+)
PWK/PhJ ENSLUMG00010030227
 protein coding gene Chr9:56499635-56525410 (+)
SPRET/EiJ ENSMSPG00010021068
 protein coding gene Chr9:57546549-57572523 (+)
WSB/EiJ ENSIUOG00005038511
 protein coding gene Chr9:56003796-56029386 (+)



Homology
more
  • Human Ortholog
    HEXA, hexosaminidase subunit alpha
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    HEXA, hexosaminidase subunit alpha
  • Synonyms
    TSD
  • Links
    NCBI Gene ID: 3073
    UniProt: P06865

  • Chr Location
    15q23; chr15:72340924-72376420 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Hexa mouse models; 1 with human HEXA associations

Human Disease Mouse Models
      
IDs
 View 3 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    12 phenotypes from 3 alleles in 3 genetic backgrounds
    34 phenotypes from multigenic genotypes
    39 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    67
  • GO References
    30
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    736
  • Tissues
    105
  • cDNA Data
    135
  • Literature Summary
    6
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 15211 NCBI Gene Model | MGI Sequence Detail 25427 C57BL/6J ±  kb
    transcript NM_001410424 RefSeq | MGI Sequence Detail 1942 ZRU/MplStud  
    polypeptide P29416 UniProt | EBI | MGI Sequence Detail 528 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 159
      Genomic 17
      cDNA 138
      Primer pair 3
      Other 1
      Antibodies 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-10696, MGD-MRK-10697
    References
    more
    • Summaries
      All 101
      Developmental Gene Expression 6
      Diseases 4
      Gene Ontology 30
      Phenotypes 39
    • 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:386422 Nuzzolillo F, et al., Combined Transcriptomic and Proteomic Profiling Uncovers Developmental Dynamics of Autophagy in the Cortex. Biomedicines. 2026 Apr 2;14(4)
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    09/01/2026
    MGI 6.24     		The Jackson Laboratory