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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
    gene 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
    18
  • 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 MGP_129S1SvImJ_G0034901
 protein coding gene Chr9:58893742-58919055 (+)
A/J MGP_AJ_G0034882
 protein coding gene Chr9:57002988-57028564 (+)
AKR/J MGP_AKRJ_G0034811
 protein coding gene Chr9:58318693-58346819 (+)
BALB/cJ MGP_BALBcJ_G0034874
 protein coding gene Chr9:56740503-56766019 (+)
C3H/HeJ MGP_C3HHeJ_G0034584
 protein coding gene Chr9:58815446-58840645 (+)
C57BL/6NJ MGP_C57BL6NJ_G0035393
 protein coding gene Chr9:60520313-60545717 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0032304
 protein coding gene Chr9:56733797-56758626 (+)
CAST/EiJ MGP_CASTEiJ_G0033905
 protein coding gene Chr9:58898917-58924223 (+)
CBA/J MGP_CBAJ_G0034555
 protein coding gene Chr9:62655024-62687145 (+)
DBA/2J MGP_DBA2J_G0034714
 protein coding gene Chr9:56822357-56848217 (+)
FVB/NJ MGP_FVBNJ_G0034656
 protein coding gene Chr9:56080832-56106446 (+)
LP/J MGP_LPJ_G0034797
 protein coding gene Chr9:59200690-59226896 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0034699
 protein coding gene Chr9:64096598-64126155 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0035415
 protein coding gene Chr9:58329861-58355352 (+)
PWK/PhJ MGP_PWKPhJ_G0033609
 protein coding gene Chr9:56878253-56904554 (+)
SPRET/EiJ MGP_SPRETEiJ_G0033444
 protein coding gene Chr9:58608749-58634246 (+)
WSB/EiJ MGP_WSBEiJ_G0034018
 protein coding gene Chr9:58267338-58294242 (+)



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
    neXtProt AC: NX_P06865
    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
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  • Phenotype Summary
    12 phenotypes from 3 alleles in 3 genetic backgrounds
    34 phenotypes from multigenic genotypes
    34 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
    60
  • GO References
    28
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
    839
  • Tissues
    103
  • cDNA Data
    135
  • Literature Summary
    5
  • 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
    • UniProt
      9 Sequences
    • Protein Ontology
      PR:000008524 beta-hexosaminidase subunit alpha
      (term hierarchy)
    • EC
      3.2.1.52
    • InterPro Domains
      IPR025705 Beta-hexosaminidase
      IPR029019 Beta-hexosaminidase, eukaryotic type, N-terminal
      IPR029018 Beta-hexosaminidase-like, domain 2
      IPR015883 Glycoside hydrolase family 20, catalytic domain
      IPR017853 Glycoside hydrolase superfamily
    • GlyGen
      P29416 5 sites, 2 N-linked glycans (1 site), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 158
      Genomic 17
      cDNA 138
      Primer pair 2
      Other 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-10696, MGD-MRK-10697
    References
    more
    • Summaries
      All 91
      Developmental Gene Expression 5
      Diseases 4
      Gene Ontology 28
      Phenotypes 34
    • 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:353489 Raha S, et al., Lipid-Lowering Drug Gemfibrozil Protects Mice from Tay-Sachs Disease via Peroxisome Proliferator-Activated Receptor alpha. Cells. 2023 Dec 8;12(24)
    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
    12/10/2024
    MGI 6.24     		The Jackson Laboratory