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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
  • Gene Overview
    MyGene.info: HEXA
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr9:59539545-59565109 bp, + strand
  • From NCBI annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      25565 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 9, 32.02 cM
  • Mapping Data
    7 experiments
Homology
more
  • Human Ortholog
    HEXA, hexosaminidase subunit alpha
  • Vertebrate Orthologs
    9
  • Human Ortholog
    HEXA, hexosaminidase subunit alpha
    Orthology source: HomoloGene, HGNC
  • Synonyms
    TSD
  • Links
    NCBI Gene ID: 3073
    neXtProt AC: NX_P06865
    UniProt: P06865

  • Chr Location
    15q23; chr15:72343435-72376473 (-)  GRCh38.p7

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
    25 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
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  • All GO Annotations
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 15211 NCBI Gene Model | MGI Sequence Detail 25565 C57BL/6J ±  kb
    transcript NM_010421 RefSeq | MGI Sequence Detail 2016 C57BL/6  
    polypeptide P29416 UniProt | EBI | MGI Sequence Detail 528 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      159 from dbSNP Build 142
    • RFLP
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 157
      Genomic 17
      cDNA 137
      Primer pair 2
      Other 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-10696, MGD-MRK-10697
    References
    more
    • Summaries
      All 75
      Developmental Gene Expression 4
      Diseases 4
      Gene Ontology 21
      Phenotypes 25
    • 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:236789 Suzuki K, et al., Accumulated alpha-synuclein affects the progression of GM2 gangliosidoses. Exp Neurol. 2016 Oct;284(Pt A):38-49

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    06/12/2018
    MGI 6.12
    The Jackson Laboratory