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HEXA Gene(Protein Coding)

Hexosaminidase Subunit Alpha

GCID:
GC15M072340
GIFtS:
64
Genes Participants
UDN Logo

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
  • EC 3.2.1.52 4 61
  • GM2 Gangliosidosis 2
  • Tay Sachs Disease 2
  • EC 3.2.1 61
  • 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, B Variant, Adult Form. Among its related pathways are Glycosaminoglycan degradation and Keratan sulfate/keratin 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 CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HEXA Gene

Genomics for HEXA Gene

Products:

  1. Regulatory Element

Regulatory Elements for HEXA Gene

Enhancers for HEXA Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15G072225 1.8 FANTOM5 ENCODE dbSUPER 26.8 +147.2 147225 8.0 MLX AGO1 FEZF1 DMAP1 YBX1 SLC30A9 ZNF416 ZNF143 ZNF263 SP3 HEXA LOC105370887 PKM ENSG00000261187 TMEM202-AS1 BBS4 RPL17P39 ARIH1 ENSG00000260672 ENSG00000260534
GH15G072471 1.4 ENCODE dbSUPER 24.9 -97.5 -97486 5.6 MLX CREB3L1 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 ZNF548 ZNF263 HEXA ARIH1 ENSG00000261187 RPL12P35 ENSG00000260534 ADPGK
GH15G072338 1.4 Ensembl ENCODE dbSUPER 18.4 +36.9 36896 2.4 PKNOX1 ATF1 FOXA2 ZSCAN4 INSM2 KLF17 SIN3A ZEB1 ZSCAN5C SCRT2 HEXA RPL12P35 CELF6 ENSG00000260729
GH15G072181 1.7 Ensembl ENCODE dbSUPER 12.6 +193.2 193160 3.4 CREB3L1 MLX DMAP1 FEZF1 YY1 ZNF143 ZNF548 ZNF263 SP3 NFYC ENSG00000261187 ARIH1 HEXA TMEM202-AS1 PKM PARP6 GRAMD2A ENSG00000260173
GH15G072781 2 FANTOM5 Ensembl ENCODE dbSUPER 10.2 -408.2 -408202 5.6 MLX CREB3L1 ZFP64 FEZF1 YY1 SLC30A9 ZNF143 ZNF548 ZNF263 SP3 BBS4 ENSG00000261187 ARIH1 ENSG00000260672 ADPGK TMEM202-AS1 HEXA ADPGK-AS1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HEXA on UCSC Golden Path with GeneCards custom track

Promoters for HEXA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000079038 776 2201 MLX CREB3L1 AGO1 FEZF1 DMAP1 YY1 SLC30A9 ZNF416 SP3 NFYC

Transcription factor binding sites by QIAGEN in the HEXA gene promoter:

Genomic Location for HEXA Gene

Chromosome:
15
Start:
72,340,919 bp from pter
End:
72,376,476 bp from pter
Size:
35,558 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 Structure • Gene Density

RefSeq DNA sequence for HEXA Gene

Proteins for HEXA Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for HEXA Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for HEXA Gene

P06865:
  • PRFPHRG
  • HLGGDEV
  • PDTIIQVWRE
  • PRLWPRA
  • DTSRHYLP
  • LESFYIQTLLDIVS
  • LRGLETFSQL
  • SVENYTLTIND
  • LPLSSIL
  • PGLLTPCYSGS
  • SFPYESFTFPEL
  • ARLRGIRV
  • EFDTPGHTLSWG
  • LSAPWYL

Post-translational modifications for HEXA Gene

  • N-linked glycan at Asn-115 consists of Man(3)-GlcNAc(2).
  • Glycosylation at posLast=115115, posLast=157157, and posLast=295295
  • Modification sites at PhosphoSitePlus

Other Protein References for HEXA Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

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

Domains & Families for HEXA Gene

Protein Domains for HEXA Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for HEXA Gene

GenScript: Design optimal peptide antigens:

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

No data available for Gene Families for HEXA Gene

Function for HEXA Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

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:0004563 beta-N-acetylhexosaminidase activity IEA,TAS --
GO:0008375 acetylglucosaminyltransferase activity IDA 25645918
GO:0016787 hydrolase activity IEA --
GO:0016798 hydrolase activity, acting on glycosyl bonds 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

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

CRISPR Products

Inhibitory RNA 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

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 IDA 19946888
GO:0042582 azurophil granule IDA 25645918
GO:0043202 lysosomal lumen TAS --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with HEXA: view

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

Products:

  1. Drug

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
N-Acetyl-D-glucosamine Approved Nutra 0
Flurofamide Pharma Urease inhibitor 0
(Z)-Pugnac Pharma Inhibitor of O-GlcNAcase and β-hexosaminidase, O-GlcNAcase and beta-hexosaminidase inhibitor 0
Thiamet G Pharma O-GlcNAcase inhibitor, potent and selective, Potent O-GlcNAcase inhibitor 0

(47) Additional Compounds for HEXA Gene - From: HMDB, Novoseek, and Tocris

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
 88506-68-7
Ganglioside GA2 (d18:1/16:0)
  • Asialo GM2
  • Bissulfogangliotetraosylceramide
  • G(A2) Ganglioside
  • GA2
  • GA2 Ganglioside
 88506-68-7
Ganglioside GA2 (d18:1/20:0)
  • Asialo GM2
  • Bissulfogangliotetraosylceramide
  • G(A2) Ganglioside
  • GA2
  • GA2 Ganglioside
 88506-68-7
Ganglioside GA2 (d18:1/24:0)
  • Asialo GM2
  • Bissulfogangliotetraosylceramide
  • G(A2) Ganglioside
  • GA2
  • GA2 Ganglioside
 88506-68-7

(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
JZP 430 Potent and irreversible alpha/beta-hydrolase domain 6 (ABHD6) inhibitor 1672691-74-5
Thiamet G Potent O-GlcNAcase inhibitor 1009816-48-1
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

Transcripts for HEXA Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for HEXA Gene

(2) REFSEQ mRNAs :
(16) Additional mRNA sequences :
(605) 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:

CRISPR Products

Inhibitory RNA Products

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
HEXA
ECgene alternative splicing isoforms for
HEXA

Expression for HEXA Gene

Products:

  1. Primer

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

mRNA expression in normal human tissues for HEXA Gene
mRNA expression by BioGPS for HEXA GenemRNA expression by GTEx 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, PaxDb, 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
Organs:
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

Primer 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
chimpanzee
(Pan troglodytes)
 Mammalia HEXA 34 35
  • 99.56 (n)
cow
(Bos Taurus)
 Mammalia HEXA 34 35
  • 86.64 (n)
dog
(Canis familiaris)
 Mammalia HEXA 34 35
  • 86.3 (n)
mouse
(Mus musculus)
 Mammalia Hexa 34 16 35
  • 84.41 (n)
rat
(Rattus norvegicus)
 Mammalia Hexa 34
  • 83.52 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 35
  • 74 (a)
 OneToMany
-- 35
  • 71 (a)
 OneToMany
oppossum
(Monodelphis domestica)
 Mammalia HEXA 35
  • 68 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves HEXA 34 35
  • 68.27 (n)
lizard
(Anolis carolinensis)
 Reptilia HEXA 35
  • 63 (a)
 OneToOne
zebrafish
(Danio rerio)
 Actinopterygii zgc:112084 34
  • 60.43 (n)
hexa 35
  • 55 (a)
 OneToOne
wufc04h11 34
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.11966 34
fruit fly
(Drosophila melanogaster)
 Insecta Hexo2 36 35
  • 35 (a)
Hexo1 36 35
  • 32 (a)
fdl 35
  • 23 (a)
 ManyToMany
worm
(Caenorhabditis elegans)
 Secernentea T14F9.3 36
  • 41 (a)
hex-1 35
  • 37 (a)
 OneToMany
thale cress
(Arabidopsis thaliana)
 eudicotyledons HEXO3 34
  • 49.69 (n)
rice
(Oryza sativa)
 Liliopsida Os01g0891000 34
  • 48.2 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.7268 35
  • 50 (a)
 OneToMany
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.1883 34
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)

Paralogs for HEXA Gene

Variants for HEXA Gene

Sequence variations from dbSNP and Humsavar for HEXA Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs121907952 other, GM2-gangliosidosis 1 (GM2G1) [MIM:272800] 72,345,528(-) TTGCC(A/G/T)AAAGG nc-transcript-variant, reference, missense, stop-gained
rs121907953 Pathogenic, GM2-gangliosidosis 1 (GM2G1) [MIM:272800] 72,353,106(-) CATCT(C/T)GCCAT nc-transcript-variant, reference, missense
rs121907954 Pathogenic, GM2-gangliosidosis 1 (GM2G1) [MIM:272800] 72,350,518(-) GACCA(A/C/G)GTAAG nc-transcript-variant, reference, missense
rs121907955 Pathogenic, GM2-gangliosidosis 1 (GM2G1) [MIM:272800] 72,345,461(-) CTTCC(A/G/T)CTGTG nc-transcript-variant, reference, missense
rs121907956 Pathogenic, GM2-gangliosidosis 1 (GM2G1) [MIM:272800] 72,345,476(-) TGAAC(A/G)TTTGT nc-transcript-variant, reference, missense

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

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

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)

Relevant External Links for HEXA Gene

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

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

Disorders for HEXA Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
tay-sachs disease
  • gm2-gangliosidosis, several forms
tay-sachs disease, b variant, adult form
  • gm2 gangliosidosis, b variant, adult form
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, b1 variant
  • gm2 gangliosidosis, b1 variant
- 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)

Relevant External Links for HEXA

Genetic Association Database (GAD)
HEXA
Human Genome Epidemiology (HuGE) Navigator
HEXA
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HEXA
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 22 46 64
  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 46 64
  3. 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 22 46 64
  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 N.J. … Strom C.M. (Pediatr. Res. 2010) 3 22 46 64
  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. (J. Hum. Genet. 2003) 3 4 22 64

Products for HEXA Gene

  • Cloud-Clone Corp. Antibodies for HEXA
  • Cloud-Clone Corp. Proteins for HEXA
  • Cloud-Clone Corp Assay Kits for HEXA

Sources for HEXA Gene

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