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Aliases for HEXA Gene

Aliases for HEXA Gene

  • Hexosaminidase Subunit Alpha 2 3 5
  • N-Acetyl-Beta-Glucosaminidase Subunit Alpha 3 4
  • Beta-N-Acetylhexosaminidase Subunit Alpha 3 4
  • Hexosaminidase A (Alpha Polypeptide) 2 3
  • Beta-Hexosaminidase Subunit Alpha 2 3
  • Hexosaminidase Subunit A 3 4
  • GM2 Gangliosidosis 2
  • Tay Sachs Disease 2
  • EC 3.2.1.52 4
  • TSD 3

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 a member of the glycosyl hydrolase 20 family of proteins. The encoded preproprotein is proteolytically processed to generate the alpha subunit of the lysosomal enzyme beta-hexosaminidase. This enzyme, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene lead to an accumulation of GM2 ganglioside in neurons, the underlying cause of neurodegenerative disorders termed the GM2 gangliosidoses, including Tay-Sachs disease (GM2-gangliosidosis type I). Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]

GeneCards Summary for HEXA Gene

HEXA (Hexosaminidase Subunit Alpha) is a Protein Coding gene. Diseases associated with HEXA include Tay-Sachs Disease and Tay-Sachs Disease, B1 Variant. Among its related pathways are Glycosaminoglycan degradation and Metabolism. Gene Ontology (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

Additional gene information for HEXA Gene

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

Genomics for HEXA Gene

GeneHancer (GH) Regulatory Elements for HEXA Gene

Promoters and enhancers for HEXA Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J072374 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 668.7 +0.2 216 3.3 CLOCK MLX FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF416 HEXA ENSG00000260729 HEXA-AS1 ENSG00000261187 MYO9A ARIH1 LOC105370887 TMEM202-AS1 TMEM202 BBS4
GH15J072225 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 86.7 +147.2 147224 8 CLOCK MLX FEZF1 DMAP1 YBX1 IRF4 YY1 SLC30A9 ZNF213 E2F8 PKM LOC105370887 ENSG00000261187 HEXA TMEM202-AS1 ARIH1 MYO9A ADPGK CELF6 RPL17P39
GH15J072471 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 34.8 -97.5 -97485 5.6 CLOCK MLX FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ARIH1 TMEM202-AS1 ENSG00000261187 HEXA PARP6 LOC105370887 BBS4 MYO9A ENSG00000260672 CELF6
GH15J072781 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 21.4 -408.2 -408202 5.6 CLOCK MLX ZFP64 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF548 ADPGK ADPGK-AS1 ENSG00000261187 MYO9A BBS4 HEXA PARP6 LOC105370887 ARIH1 TMEM202
GH15J072194 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 16.2 +177.0 176956 9.6 FOXA2 ZFP64 ARID4B SIN3A FEZF1 ZNF2 IRF4 ZNF48 POLR2B GLIS2 GRAMD2A PARP6 ENSG00000261187 LOC105370887 RPL17P39 ENSG00000260672 HEXA CELF6 PKM TMEM202-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around HEXA on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HEXA gene promoter:
  • p53
  • ATF6
  • USF-1
  • USF-1:USF-2
  • USF1
  • USF2
  • HTF
  • ARP-1
  • RFX1

Genomic Locations for HEXA Gene

Genomic Locations for HEXA Gene
chr15:72,340,919-72,376,476
(GRCh38/hg38)
Size:
35,558 bases
Orientation:
Minus strand
chr15:72,635,775-72,668,817
(GRCh37/hg19)
Size:
33,043 bases
Orientation:
Minus strand

Genomic View for HEXA Gene

Genes around HEXA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HEXA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    P06865-HEXA_HUMAN
    Recommended name:
    Beta-hexosaminidase subunit alpha
    Protein Accession:
    P06865
    Secondary Accessions:
    • B4DKE7
    • E7ENH7
    • Q53HS8
    • Q6AI32

    Protein attributes for HEXA Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for HEXA Gene

Post-translational modifications for HEXA Gene

  • N-linked glycan at Asn-115 consists of Man(3)-GlcNAc(2).
  • Glycosylation at Asn295, isoforms=157, and Asn115
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for HEXA Gene

Domains & Families for HEXA Gene

Gene Families for HEXA Gene

Human Protein Atlas (HPA):
  • Candidate cardiovascular disease genes
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted secreted proteins

Graphical View of Domain Structure for InterPro Entry

P06865

UniProtKB/Swiss-Prot:

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

Function for HEXA Gene

Molecular function for HEXA Gene

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.
UniProtKB/Swiss-Prot CatalyticActivity:
Hydrolysis of terminal non-reducing N-acetyl-D-hexosamine residues in N-acetyl-beta-D-hexosaminides.
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

Enzyme Numbers (IUBMB) for HEXA Gene

Gene Ontology (GO) - Molecular Function for HEXA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004563 beta-N-acetylhexosaminidase activity IEA,TAS --
GO:0005515 protein binding IPI 16698036
GO:0008375 acetylglucosaminyltransferase activity IDA 25645918
GO:0016787 hydrolase activity IEA --
GO:0016798 hydrolase activity, acting on glycosyl bonds IEA --
genes like me logo Genes that share ontologies with HEXA: view
genes like me logo Genes that share phenotypes with HEXA: view

Human Phenotype Ontology for HEXA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for HEXA Gene

MGI Knock Outs for HEXA:

Animal Model Products

miRNA for HEXA Gene

miRTarBase miRNAs that target HEXA

Clone Products

No data available for Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for HEXA Gene

Localization for HEXA Gene

Subcellular locations from UniProtKB/Swiss-Prot for HEXA Gene

Lysosome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HEXA gene
Compartment Confidence
extracellular 5
lysosome 5
mitochondrion 2
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for HEXA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA --
GO:0016020 membrane HDA 19946888
GO:0042582 azurophil granule IDA 25645918
GO:0043202 lysosomal lumen TAS --
GO:0070062 extracellular exosome HDA 23533145
genes like me logo Genes that share ontologies with HEXA: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for HEXA Gene

Pathways & Interactions for HEXA Gene

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

Gene Ontology (GO) - Biological Process for HEXA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0006024 glycosaminoglycan biosynthetic process IDA 25645918
GO:0006687 glycosphingolipid metabolic process TAS --
GO:0008152 metabolic process IEA --
GO:0030207 chondroitin sulfate catabolic process TAS --
genes like me logo Genes that share ontologies with HEXA: view

No data available for SIGNOR curated interactions for HEXA Gene

Drugs & Compounds for HEXA Gene

(9) Drugs for HEXA Gene - From: ApexBio, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
N-Acetyl-D-glucosamine Approved, Investigational Nutra 0
Water Approved Pharma 0
Flurofamide Pharma Urease inhibitor 0
SCH 51344 Pharma MTH1 inhibitor, Potent MTH1 inhibitor 0
WWL 70 Pharma α/β-hydrolase domain 6 inhibitor, Potent ABHD6 inhibitor 0

(64) Additional Compounds for HEXA Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Chitobiose
  • CBS
  • Chitodextrin
  • Diacetylchitobiose
577-76-4
Ganglioside GA2 (d18:1/12:0)
  • asialo GM2
  • Bissulfogangliotetraosylceramide
  • g(a2) Ganglioside
  • GA2
  • GA2 ganglioside
Ganglioside GA2 (d18:1/16:0)
  • asialo GM2
  • Bissulfogangliotetraosylceramide
  • g(a2) Ganglioside
  • GA2
  • GA2 ganglioside
Ganglioside GA2 (d18:1/18:0)
  • asialo GM2
  • Bissulfogangliotetraosylceramide
  • g(a2) Ganglioside
  • GA2
  • GA2 ganglioside
Ganglioside GA2 (d18:1/20:0)
  • asialo GM2
  • Bissulfogangliotetraosylceramide
  • g(a2) Ganglioside
  • GA2
  • GA2 ganglioside

(3) Tocris Compounds for HEXA Gene

Compound Action Cas Number
Flurofamide Urease inhibitor 70788-28-2
SCH 51344 Potent MTH1 inhibitor 171927-40-5
WWL 70 Potent ABHD6 inhibitor 947669-91-2

(1) ApexBio Compounds for HEXA Gene

Compound Action Cas Number
Flurofamide 70788-28-2
genes like me logo Genes that share compounds with HEXA: view

Drug Products

Transcripts for HEXA Gene

mRNA/cDNA for HEXA Gene

Unigene Clusters for HEXA Gene

Hexosaminidase A (alpha polypeptide):
Representative Sequences:

Clone Products

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

No ASD Table

Relevant External Links for HEXA Gene

GeneLoc Exon Structure for
HEXA
ECgene alternative splicing isoforms for
HEXA

Expression for HEXA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HEXA Gene

Protein differential expression in normal tissues from HIPED for HEXA Gene

This gene is overexpressed in Skin (10.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for HEXA Gene



Protein tissue co-expression partners for HEXA Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HEXA Gene:

HEXA

SOURCE GeneReport for Unigene cluster for HEXA Gene:

Hs.604479

Evidence on tissue expression from TISSUES for HEXA Gene

  • Nervous system(4.9)
  • Eye(4.6)
  • Liver(4.4)
  • Skin(3.9)
  • Kidney(3.6)
  • Lung(3.5)
  • Intestine(3.3)
  • Blood(3)
  • Muscle(2.2)
  • Heart(2.1)
  • Pancreas(2.1)
  • Thyroid gland(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HEXA Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • epiglottis
  • eye
  • head
  • mouth
  • neck
  • pharynx
  • skull
Thorax:
  • bronchus
  • lung
  • trachea
Abdomen:
  • liver
  • spleen
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with HEXA: view

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
chimpanzee
(Pan troglodytes)
Mammalia HEXA 34 33
  • 99.56 (n)
OneToOne
cow
(Bos Taurus)
Mammalia HEXA 34 33
  • 86.64 (n)
OneToOne
dog
(Canis familiaris)
Mammalia HEXA 34 33
  • 86.3 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Hexa 16 34 33
  • 84.41 (n)
rat
(Rattus norvegicus)
Mammalia Hexa 33
  • 83.52 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 74 (a)
OneToMany
-- 34
  • 71 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia HEXA 34
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves HEXA 34 33
  • 68.27 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HEXA 34
  • 63 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii zgc:112084 33
  • 60.43 (n)
hexa 34
  • 55 (a)
OneToOne
wufc04h11 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11966 33
fruit fly
(Drosophila melanogaster)
Insecta Hexo2 34 35
  • 27 (a)
ManyToMany
Hexo1 34 35
  • 24 (a)
ManyToMany
fdl 34
  • 23 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea T14F9.3 35
  • 41 (a)
hex-1 34
  • 37 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons HEXO3 33
  • 49.69 (n)
rice
(Oryza sativa)
Liliopsida Os01g0891000 33
  • 48.2 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7268 34
  • 50 (a)
OneToMany
Cin.1883 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1883 33
Species where no ortholog for HEXA was found in the sources mined by GeneCards:
  • 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

ENSEMBL:
Gene Tree for HEXA (if available)
TreeFam:
Gene Tree for HEXA (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HEXA: view image

Paralogs for HEXA Gene

Paralogs for HEXA Gene

(1) SIMAP similar genes for HEXA Gene using alignment to 26 proteins:

  • HEXA_HUMAN
  • B4DKE7_HUMAN
  • E9PGL4_HUMAN
  • G3XL48_HUMAN
  • G3XL49_HUMAN
  • G3XL78_HUMAN
  • G3XL79_HUMAN
  • G3XL80_HUMAN
  • G3XL81_HUMAN
  • G3XL82_HUMAN
  • G3XL83_HUMAN
  • G8FGB2_HUMAN
  • H3BP20_HUMAN
  • H3BQ04_HUMAN
  • H3BRP6_HUMAN
  • H3BS10_HUMAN
  • H3BT62_HUMAN
  • H3BTD4_HUMAN
  • H3BU85_HUMAN
  • H3BVH8_HUMAN
  • Q16017_HUMAN
  • Q6PJ76_HUMAN
  • Q9BVJ8_HUMAN
  • V9H096_HUMAN
  • V9H0A6_HUMAN
  • V9H0E1_HUMAN
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 Variation AA Info Type
rs1012228669 uncertain-significance, Tay-Sachs disease 72,376,113(-) C/T 5_prime_UTR_variant, non_coding_transcript_variant
rs1050913691 likely-benign, Tay-Sachs disease 72,347,844(-) C/T intron_variant
rs1057516617 likely-pathogenic, Tay-Sachs disease 72,346,707(-) G/A coding_sequence_variant, intron_variant, stop_gained
rs1057516640 likely-pathogenic, Tay-Sachs disease 72,375,780(-) AGGCCTCGTCGAGG/AGG coding_sequence_variant, frameshift, non_coding_transcript_variant
rs1057516755 likely-pathogenic, Tay-Sachs disease 72,348,075(-) TTGA/ coding_sequence_variant, frameshift, non_coding_transcript_variant

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

Variant ID Type Subtype PubMed ID
nsv7267 OTHER inversion 18451855
nsv521971 CNV gain 19592680
nsv1125360 OTHER inversion 24896259
esv3636874 CNV loss 21293372
esv2603997 CNV insertion 19546169

Variation tolerance for HEXA Gene

Residual Variation Intolerance Score: 33.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.61; 45.13% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HEXA Gene

Human Gene Mutation Database (HGMD)
HEXA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HEXA

SNP Genotyping and Copy Number Assay Products

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

Disorders for HEXA Gene

MalaCards: The human disease database

(31) MalaCards diseases for HEXA Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
tay-sachs disease
  • tsd
tay-sachs disease, b1 variant
  • gm2 gangliosidosis, b1 variant
tay-sachs disease, b variant, juvenile form
  • gm2 gangliosidosis, b variant, juvenile form
tay-sachs disease, b variant, infantile form
  • gm2 gangliosidosis, b variant, infantile form
tay-sachs disease, b variant, adult form
  • gm2 gangliosidosis, b variant, adult form
- elite association - COSMIC cancer census association via MalaCards
Search HEXA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

HEXA_HUMAN
  • 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:2140574, ECO:0000269 PubMed:2144098, ECO:0000269 PubMed:22723944, ECO:0000269 PubMed:2522679, ECO:0000269 PubMed:27682588, 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.

Genatlas disease for HEXA Gene

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

Additional Disease Information for HEXA

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (Human mutation 1998) 3 4 22 44 58
  2. A new mutation in the HEXA gene associated with a spinal muscular atrophy phenotype. (PMID: 7898712) Navon R … Rondot P (Neurology 1995) 3 4 22 44 58
  3. A second mutation associated with apparent beta-hexosaminidase A pseudodeficiency: identification and frequency estimation. (PMID: 7902672) Cao Z … Triggs-Raine BL (American journal of human genetics 1993) 3 4 22 44 58
  4. Improving accuracy of Tay Sachs carrier screening of the non-Jewish population: analysis of 34 carriers and six late-onset patients with HEXA enzyme and DNA sequence analysis. (PMID: 19858779) Park NJ … Strom CM (Pediatric research 2010) 3 22 44 58
  5. Different attenuated phenotypes of GM2 gangliosidosis variant B in Japanese patients with HEXA mutations at codon 499, and five novel mutations responsible for infantile acute form. (PMID: 14566483) Tanaka A … Yamano T (Journal of human genetics 2003) 3 4 22 58

Products for HEXA Gene