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Aliases for HEXA Gene

Aliases for HEXA Gene

  • Hexosaminidase A (Alpha Polypeptide) 2 3
  • N-Acetyl-Beta-Glucosaminidase Subunit Alpha 3 4
  • Beta-N-Acetylhexosaminidase Subunit Alpha 3 4
  • Hexosaminidase Subunit A 3 4
  • EC 4 63
  • TSD 3 6
  • Beta-Hexosaminidase Subunit Alpha 3
  • GM2 Gangliosidosis 2
  • Tay Sachs Disease 2
  • EC 3.2.1 63

External Ids for HEXA Gene

Previous GeneCards Identifiers for HEXA Gene

  • GC15M068437
  • GC15M065740
  • GC15M070211
  • GC15M070351
  • GC15M070422
  • GC15M072635
  • GC15M049466

Summaries for HEXA Gene

Entrez Gene Summary for HEXA Gene

  • This gene encodes the alpha subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by separate genes. Both beta-hexosaminidase alpha and beta subunits are members of family 20 of glycosyl hydrolases. Mutations in the alpha or beta subunit genes lead to an accumulation of GM2 ganglioside in neurons and neurodegenerative disorders termed the GM2 gangliosidoses. Alpha subunit gene mutations lead to Tay-Sachs disease (GM2-gangliosidosis type I). [provided by RefSeq, Jul 2009]

GeneCards Summary for HEXA Gene

HEXA (Hexosaminidase A (Alpha Polypeptide)) is a Protein Coding gene. Diseases associated with HEXA include tay-sachs disease and tay-sachs disease, b variant, juvenile form. Among its related pathways are Disease and Sphingolipid metabolism. GO annotations related to this gene include protein heterodimerization activity and beta-N-acetylhexosaminidase activity. An important paralog of this gene is HEXB.

UniProtKB/Swiss-Prot for HEXA Gene

  • Responsible for the degradation of GM2 gangliosides, and a variety of other molecules containing terminal N-acetyl hexosamines, in the brain and other tissues. The form B is active against certain oligosaccharides. The form S has no measurable activity

Tocris Summary for HEXA Gene

Gene Wiki entry for HEXA Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HEXA Gene

Genomics for HEXA Gene

Regulatory Elements for HEXA Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for HEXA Gene

72,340,919 bp from pter
72,376,476 bp from pter
35,558 bases
Minus strand

Genomic View for HEXA Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HEXA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HEXA Gene

Proteins for HEXA Gene

  • Protein details for HEXA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Beta-hexosaminidase subunit alpha
    Protein Accession:
    Secondary Accessions:
    • B4DKE7
    • E7ENH7
    • Q53HS8
    • Q6AI32

    Protein attributes for HEXA Gene

    529 amino acids
    Molecular mass:
    60703 Da
    Quaternary structure:
    • There are 3 forms of beta-hexosaminidase: hexosaminidase A is a trimer composed of one subunit alpha, one subunit beta chain A and one subunit beta chain B; hexosaminidase B is a tetramer of two subunit beta chains A and two subunit beta chains B; hexosaminidase S is a homodimer of two alpha subunits. The two beta chains are derived from the cleavage of the beta subunit.

    Three dimensional structures from OCA and Proteopedia for HEXA Gene

    Alternative splice isoforms for HEXA Gene


neXtProt entry for HEXA Gene

Proteomics data for HEXA Gene at MOPED

Post-translational modifications for HEXA Gene

  • N-linked glycan at Asn-115 consists of Man(3)-GlcNAc(2).
  • Glycosylation at Asn115, Asn157, and Asn295
  • Modification sites at PhosphoSitePlus

Other Protein References for HEXA Gene

Antibody Products

  • R&D Systems Antibodies for HEXA (Hexosaminidase A/HEXA)

Domains for HEXA Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the glycosyl hydrolase 20 family.
  • Belongs to the glycosyl hydrolase 20 family.
genes like me logo Genes that share domains with HEXA: view

No data available for Gene Families for HEXA Gene

Function for HEXA Gene

Molecular function for HEXA Gene

GENATLAS Biochemistry:
hexosaminidase A,alpha polypeptide,lysosomal,catalyzing the degradation of glycosphingolipids with terminal alpha-galactosyl residues in most non neuronal tissues and in body fluids,hydrolyzing ganglioside GM2,glycoproteins,glycosamino-glycans,glycolipids
UniProtKB/Swiss-Prot CatalyticActivity:
Hydrolysis of terminal non-reducing N-acetyl-D-hexosamine residues in N-acetyl-beta-D-hexosaminides
UniProtKB/Swiss-Prot Function:
Responsible for the degradation of GM2 gangliosides, and a variety of other molecules containing terminal N-acetyl hexosamines, in the brain and other tissues. The form B is active against certain oligosaccharides. The form S has no measurable activity

Enzyme Numbers (IUBMB) for HEXA Gene

Gene Ontology (GO) - Molecular Function for HEXA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds --
GO:0004563 beta-N-acetylhexosaminidase activity IEA --
GO:0046982 protein heterodimerization activity IDA 6230359
genes like me logo Genes that share ontologies with HEXA: view
genes like me logo Genes that share phenotypes with HEXA: view

Animal Models for HEXA Gene

MGI Knock Outs for HEXA:

Animal Model Products

miRNA for HEXA Gene

miRTarBase miRNAs that target HEXA

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for HEXA

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for HEXA Gene

Localization for HEXA Gene

Subcellular locations from UniProtKB/Swiss-Prot for HEXA Gene


Subcellular locations from

Jensen Localization Image for HEXA Gene COMPARTMENTS Subcellular localization image for HEXA gene
Compartment Confidence
lysosome 5
vacuole 5
mitochondrion 2
cytosol 1
endoplasmic reticulum 1
extracellular 1
nucleus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for HEXA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IDA 19946888
GO:0043202 lysosomal lumen TAS --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with HEXA: view

Pathways for HEXA Gene

genes like me logo Genes that share pathways with HEXA: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for HEXA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS --
GO:0006665 sphingolipid metabolic process TAS --
GO:0006687 glycosphingolipid metabolic process TAS --
GO:0008219 cell death --
GO:0030203 glycosaminoglycan metabolic process TAS --
genes like me logo Genes that share ontologies with HEXA: view

Drugs for HEXA Gene

(5) Tocris Compounds for HEXA Gene

Compound Action Cas Number
(Z)-Pugnac O-GlcNAcase and beta-hexosaminidase inhibitor [132489-69-1]
Flurofamide Urease inhibitor [70788-28-2]
ML 348 Selective and reversible lysophospholipase 1 (LYPLA1) inhibitor [899713-86-1]
SCH 51344 Potent MTH1 inhibitor [171927-40-5]
WWL 70 Potent ABHD6 inhibitor [947669-91-2]

(56) HMDB Compounds for HEXA Gene

Compound Synonyms Cas Number PubMed IDs
  • CBS
Ganglioside GA2 (d18:1/12:0)
  • Asialo GM2
Ganglioside GA2 (d18:1/16:0)
  • Asialo GM2
Ganglioside GA2 (d18:1/18:0)
  • Asialo GM2
Ganglioside GA2 (d18:1/20:0)
  • Asialo GM2

(15) Novoseek inferred chemical compound relationships for HEXA Gene

Compound -log(P) Hits PubMed IDs
g(m2) ganglioside 91.6 3
4mugs 88.4 1
ganglioside 82.1 19
asialo gm2 67.4 1
cerebroside 51.1 1
genes like me logo Genes that share compounds with HEXA: view

Transcripts for HEXA Gene

mRNA/cDNA for HEXA Gene

(1) REFSEQ mRNAs :
(16) Additional mRNA sequences :
(2) Selected AceView cDNA sequences:
(16) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HEXA Gene

Hexosaminidase A (alpha polypeptide):
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for HEXA

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for HEXA Gene

No ASD Table

Relevant External Links for HEXA Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for HEXA Gene

mRNA expression in normal human tissues for HEXA Gene

Protein differential expression in normal tissues for HEXA Gene

This gene is overexpressed in Skin (10.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for HEXA Gene

SOURCE GeneReport for Unigene cluster for HEXA Gene Hs.604479

genes like me logo Genes that share expressions with HEXA: view

Expression partners for HEXA Gene

* - Elite partner

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for HEXA Gene

Orthologs for HEXA Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HEXA Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia HEXA 35
  • 86.64 (n)
  • 84.5 (a)
  • 84 (a)
(Canis familiaris)
Mammalia HEXA 35
  • 86.3 (n)
  • 82.41 (a)
  • 82 (a)
(Mus musculus)
Mammalia Hexa 35
  • 84.41 (n)
  • 84.28 (a)
Hexa 16
Hexa 36
  • 84 (a)
(Pan troglodytes)
Mammalia HEXA 35
  • 99.56 (n)
  • 99.62 (a)
  • 100 (a)
(Rattus norvegicus)
Mammalia Hexa 35
  • 83.52 (n)
  • 82.95 (a)
(Monodelphis domestica)
Mammalia HEXA 36
  • 68 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 74 (a)
-- 36
  • 71 (a)
(Gallus gallus)
Aves HEXA 35
  • 68.27 (n)
  • 66.6 (a)
  • 66 (a)
(Anolis carolinensis)
Reptilia HEXA 36
  • 63 (a)
(Danio rerio)
Actinopterygii wufc04h11 35
zgc:112084 35
  • 60.43 (n)
  • 58.55 (a)
hexa 36
  • 55 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11966 35
fruit fly
(Drosophila melanogaster)
Insecta Hexo1 37
  • 32 (a)
Hexo2 37
  • 35 (a)
fdl 36
  • 23 (a)
Hexo1 36
  • 24 (a)
Hexo2 36
  • 27 (a)
(Caenorhabditis elegans)
Secernentea T14F9.3 37
  • 41 (a)
hex-1 36
  • 37 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons HEXO3 35
  • 49.69 (n)
  • 43.47 (a)
(Oryza sativa)
Liliopsida Os01g0891000 35
  • 48.2 (n)
  • 40.26 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1883 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7268 36
  • 50 (a)
Species with no ortholog for HEXA:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for HEXA Gene

Gene Tree for HEXA (if available)
Gene Tree for HEXA (if available)

Paralogs for HEXA Gene

Paralogs for HEXA Gene

genes like me logo Genes that share paralogs with HEXA: view

Variants for HEXA Gene

Sequence variations from dbSNP and Humsavar for HEXA Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type MAF
rs890313 -- 72,345,001(+) AATGA(A/C/G)ACAAT intron-variant
rs962407 -- 72,363,553(+) AAGCC(A/G)ACTGC intron-variant
rs963375 -- 72,357,169(+) CATTG(A/C)AGATT intron-variant
rs1054374 - 72,349,187(-) TCCCA(G/T)TCTCA reference, missense
rs1054432 -- 72,343,894(-) TTTTT(C/T)TATAA utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for HEXA Gene

Variant ID Type Subtype PubMed ID
nsv7267 OTHER Inversion 18451855
esv2603997 CNV Insertion 19546169
nsv521971 CNV Gain 19592680

Relevant External Links for HEXA Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)
Locus Specific Mutation Databases (LSDB)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HEXA Gene

Disorders for HEXA Gene

(1) OMIM Diseases for HEXA Gene (606869)


  • GM2-gangliosidosis 1 (GM2G1) [MIM:272800]: An autosomal recessive lysosomal storage disease marked by the accumulation of GM2 gangliosides in the neuronal cells. It is characterized by GM2 gangliosides accumulation in the absence of HEXA activity, leading to neurodegeneration and, in the infantile form, death in early childhood. It exists in several forms: infantile (most common and most severe), juvenile and adult (late-onset). {ECO:0000269 PubMed:1301189, ECO:0000269 PubMed:1301190, ECO:0000269 PubMed:1302612, ECO:0000269 PubMed:14566483, ECO:0000269 PubMed:1532289, ECO:0000269 PubMed:1837283, ECO:0000269 PubMed:2144098, ECO:0000269 PubMed:2522679, ECO:0000269 PubMed:2970528, ECO:0000269 PubMed:7717398, ECO:0000269 PubMed:7837766, ECO:0000269 PubMed:7898712, ECO:0000269 PubMed:7951261, ECO:0000269 PubMed:8445615, ECO:0000269 PubMed:8490625, ECO:0000269 PubMed:8581357, ECO:0000269 PubMed:8757036, ECO:0000269 PubMed:9150157, ECO:0000269 PubMed:9338583, ECO:0000269 PubMed:9375850, ECO:0000269 PubMed:9401008, ECO:0000269 PubMed:9603435}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(23) Novoseek inferred disease relationships for HEXA Gene

Disease -log(P) Hits PubMed IDs
tay-sachs disease 98.6 83
gm2 gangliosidosis 96.7 26
sandhoff disease 95.2 20
gangliosidosis 92.5 9
lysosomal storage diseases 78.4 6

Genatlas disease for HEXA Gene

Tay-Sachs disease;GM2 gangliosidosis I,infantile,juvenile,adult types (HEXA deficiency,including B1 variant)

Relevant External Links for HEXA

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with HEXA: view

Publications for HEXA Gene

  1. W474C amino acid substitution affects early processing of the alpha- subunit of beta-hexosaminidase A and is associated with subacute G(M2) gangliosidosis. (PMID: 9603435) Petroulakis E. … Triggs-Raine B. (Hum. Mutat. 1998) 3 4 23 48
  2. A second mutation associated with apparent beta-hexosaminidase A pseudodeficiency: identification and frequency estimation. (PMID: 7902672) Cao Z. … Triggs-Raine B.L. (Am. J. Hum. Genet. 1993) 3 4 23 48
  3. A new mutation in the HEXA gene associated with a spinal muscular atrophy phenotype. (PMID: 7898712) Navon R. … Rondot P. (Neurology 1995) 3 4 23 48
  4. Tay-Sachs disease and HEXA mutations among Moroccan Jews. (PMID: 9338583) Kaufman M. … Navon R. (Hum. Mutat. 1997) 3 4 23
  5. GM2 gangliosidosis B1 variant: biochemical and molecular characterization of hexosaminidase A. (PMID: 8581357) Peleg L. … Goldman B. (Biochem. Mol. Med. 1995) 3 4 23

Products for HEXA Gene

Sources for HEXA Gene

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