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Aliases for HEXB Gene

Aliases for HEXB Gene

  • Hexosaminidase Subunit Beta 2 3 5
  • N-Acetyl-Beta-Glucosaminidase Subunit Beta 3 4
  • Beta-N-Acetylhexosaminidase Subunit Beta 3 4
  • Cervical Cancer Proto-Oncogene 7 Protein 3 4
  • Hexosaminidase B (Beta Polypeptide) 2 3
  • Beta-Hexosaminidase Subunit Beta 2 3
  • Hexosaminidase Subunit B 3 4
  • HCC-7 3 4
  • Epididymis Secretory Protein Li 111 3
  • Beta-Hexosaminidase Beta-Subunit 3
  • Epididymis Luminal Protein 248 3
  • EC 4
  • HEL-S-111 3
  • ENC-1AS 3
  • HEL-248 3

External Ids for HEXB Gene

Previous GeneCards Identifiers for HEXB Gene

  • GC05P072785
  • GC05P074213
  • GC05P074019
  • GC05P074065
  • GC05P074016
  • GC05P069185
  • GC05P073935

Summaries for HEXB Gene

Entrez Gene Summary for HEXB Gene

  • Hexosaminidase B is the beta 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. Beta subunit gene mutations lead to Sandhoff disease (GM2-gangliosidosis type II). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]

GeneCards Summary for HEXB Gene

HEXB (Hexosaminidase Subunit Beta) is a Protein Coding gene. Diseases associated with HEXB include Sandhoff Disease and Tay-Sachs Disease. Among its related pathways are Glycosaminoglycan degradation and Metabolism. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and hydrolase activity, hydrolyzing O-glycosyl compounds. An important paralog of this gene is HEXA.

UniProtKB/Swiss-Prot for HEXB 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.

Tocris Summary for HEXB Gene

Gene Wiki entry for HEXB Gene

Additional gene information for HEXB Gene

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

Genomics for HEXB Gene

GeneHancer (GH) Regulatory Elements for HEXB Gene

Promoters and enhancers for HEXB Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J074635 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 650.7 0.0 -18 9.1 HDGF FOXA2 SMAD1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ENC1 HEXB RPS26P26 ENSG00000272040 LINC01331
GH05J074684 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE 659.9 +46.0 46045 3.6 ARID4B SIN3A YY1 POLR2B ZNF766 FOS SP3 SP5 ZHX2 REST HEXB ENSG00000272040 RNU6-1330P RNU6-658P FAM169A GC05M074726 ENC1
GH05J075457 Enhancer 0.7 ENCODE 9.9 +817.8 817796 0.3 FOXA2 NFIB ZSCAN4 NEUROD1 CEBPG ZBTB40 ZKSCAN1 MTA3 CTBP1 GATA3 GC05P075458 RPS26P26 NSA2 HEXB POC5 ENSG00000271815 COL4A3BP GC05P075375
GH05J074672 Enhancer 0.9 Ensembl ENCODE 6.2 +33.4 33376 0.8 CTCF ZNF644 RAD21 RFX5 GATA3 CTBP1 ZNF143 SMC3 THAP11 ZNF654 NSA2 RNU6-658P HEXB ENC1 GC05M074726
GH05J074676 Enhancer 0.4 ENCODE 6.7 +37.2 37228 1 JUND CEBPB FOS HEXB ENC1 RNU6-658P GC05M074726
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HEXB on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HEXB gene promoter:
  • S8
  • Tal-1
  • E47
  • Ik-2
  • AML1a
  • Brachyury
  • Pax-4a
  • Cdc5
  • POU2F1
  • POU2F1a

Genomic Locations for HEXB Gene

Genomic Locations for HEXB Gene
82,625 bases
Plus strand
82,625 bases
Plus strand

Genomic View for HEXB Gene

Genes around HEXB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HEXB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HEXB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HEXB Gene

Proteins for HEXB Gene

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

    Protein Symbol:
    Recommended name:
    Beta-hexosaminidase subunit beta
    Protein Accession:

    Protein attributes for HEXB Gene

    556 amino acids
    Molecular mass:
    63111 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.
    • Sequence=AAA51828.1; Type=Frameshift; Positions=21; Evidence={ECO:0000305}; Sequence=AAA68620.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for HEXB Gene

neXtProt entry for HEXB Gene

Post-translational modifications for HEXB Gene

  • N-linked glycans at Asn-142 and Asn-190 consist of Man(3)-GlcNAc(2) and Man(5 to 7)-GlcNAc(2), respectively.
  • The beta-A and beta-B chains are produced by proteolytic processing of the precursor beta chain.
  • Glycosylation at isoforms=327, Asn190, isoforms=142, and isoforms=84
  • Ubiquitination at isoforms=465
  • Modification sites at PhosphoSitePlus

Other Protein References for HEXB Gene

No data available for DME Specific Peptides for HEXB Gene

Domains & Families for HEXB Gene

Gene Families for HEXB Gene

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

Suggested Antigen Peptide Sequences for HEXB Gene

GenScript: Design optimal peptide antigens:

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 HEXB: view

Function for HEXB Gene

Molecular function for HEXB 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.
UniProtKB/Swiss-Prot CatalyticActivity:
Hydrolysis of terminal non-reducing N-acetyl-D-hexosamine residues in N-acetyl-beta-D-hexosaminides.
GENATLAS Biochemistry:
hexosaminidases A & B,beta polypeptide,lyposomal,hydrolyzing glycoproteins,glucosaminoglycans,glycolipids

Enzyme Numbers (IUBMB) for HEXB Gene

Phenotypes From GWAS Catalog for HEXB Gene

Gene Ontology (GO) - Molecular Function for HEXB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds IEA --
GO:0004563 beta-N-acetylhexosaminidase activity TAS,IEA --
GO:0005515 protein binding IPI 16698036
GO:0008375 acetylglucosaminyltransferase activity IDA 25645918
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with HEXB: view
genes like me logo Genes that share phenotypes with HEXB: view

Human Phenotype Ontology for HEXB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for HEXB Gene

MGI Knock Outs for HEXB:

Animal Model Products

miRNA for HEXB Gene

miRTarBase miRNAs that target HEXB

Clone Products

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

Localization for HEXB Gene

Subcellular locations from UniProtKB/Swiss-Prot for HEXB Gene


Subcellular locations from

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 HEXB gene
Compartment Confidence
extracellular 5
lysosome 5
endoplasmic reticulum 3

Gene Ontology (GO) - Cellular Components for HEXB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001669 acrosomal vesicle IEA --
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IEA --
GO:0005764 lysosome IEA --
GO:0016020 membrane IEA,HDA 19946888
genes like me logo Genes that share ontologies with HEXB: view

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

Pathways & Interactions for HEXB Gene

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

Gene Ontology (GO) - Biological Process for HEXB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development IEA --
GO:0005975 carbohydrate metabolic process IEA --
GO:0006687 glycosphingolipid metabolic process IEA,TAS --
GO:0006689 ganglioside catabolic process IEA --
GO:0006874 cellular calcium ion homeostasis IEA --
genes like me logo Genes that share ontologies with HEXB: view

No data available for SIGNOR curated interactions for HEXB Gene

Drugs & Compounds for HEXB Gene

(12) Drugs for HEXB Gene - From: DrugBank, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
N-Acetyl-D-glucosamine Approved, Investigational Nutra 0
Pyrimethamine Approved, Investigational, Vet_approved Pharma Inhibition, Inhibitor, Target DHFR inhibitor, Potent inhibitor of multidrug and toxin extrusion (MATE) transporters; also DHFR and STAT3 inhibitor 161
Chondroitin sulfate Approved, Investigational Nutra Enzyme, substrate 0
Water Approved Pharma 0
(2r,3r,4s,5r)-2-Acetamido-3,4-Dihydroxy-5-Hydroxymethyl-Piperidinium Experimental Pharma Target 0

(59) Additional Compounds for HEXB Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • CBS
  • Chitodextrin
  • Diacetylchitobiose
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 HEXB 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
genes like me logo Genes that share compounds with HEXB: view

Transcripts for HEXB Gene

mRNA/cDNA for HEXB Gene

Unigene Clusters for HEXB Gene

Hexosaminidase B (beta polypeptide):
Representative Sequences:

Clone Products

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

No ASD Table

Relevant External Links for HEXB Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for HEXB Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for HEXB Gene

This gene is overexpressed in Islet of Langerhans (6.3).

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

Protein tissue co-expression partners for HEXB Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HEXB Gene:


SOURCE GeneReport for Unigene cluster for HEXB Gene:


Evidence on tissue expression from TISSUES for HEXB Gene

  • Skin(4.6)
  • Liver(4.5)
  • Kidney(4.1)
  • Nervous system(3.8)
  • Lung(3.3)
  • Blood(2)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cerebellum
  • cheek
  • cranial nerve
  • ear
  • eye
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • skull
  • tongue
  • heart
  • heart valve
  • intestine
  • large intestine
  • liver
  • small intestine
  • spleen
  • anus
  • pelvis
  • penis
  • prostate
  • rectum
  • urinary bladder
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • sweat gland
  • vertebrae
genes like me logo Genes that share expression patterns with HEXB: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for HEXB Gene

Orthologs for HEXB Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HEXB Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia HEXB 34 33
  • 99.28 (n)
(Canis familiaris)
Mammalia HEXB 34 33
  • 83.37 (n)
(Bos Taurus)
Mammalia HEXB 33
  • 81.08 (n)
-- 34
  • 72 (a)
-- 34
  • 62 (a)
(Mus musculus)
Mammalia Hexb 16 34 33
  • 79.7 (n)
(Rattus norvegicus)
Mammalia Hexb 33
  • 79.51 (n)
(Ornithorhynchus anatinus)
Mammalia HEXB 34
  • 67 (a)
(Monodelphis domestica)
Mammalia HEXB 34
  • 64 (a)
(Gallus gallus)
Aves HEXB 34 33
  • 69.44 (n)
(Anolis carolinensis)
Reptilia HEXB 34
  • 60 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia hexb 33
  • 65.14 (n)
(Danio rerio)
Actinopterygii hexa 33
  • 62.33 (n)
hexb 34
  • 59 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010056 33
  • 49.67 (n)
fruit fly
(Drosophila melanogaster)
Insecta Hexo2 34 35
  • 27 (a)
Hexo1 34 35
  • 25 (a)
fdl 34
  • 24 (a)
(Caenorhabditis elegans)
Secernentea hex-1 34 33
  • 52.55 (n)
T14F9.3 35
  • 44 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons HEXO1 33
  • 47.9 (n)
(Oryza sativa)
Liliopsida Os05g0115900 33
  • 49.23 (n)
Os.9285 33
(Zea mays)
Liliopsida Zm.3467 33
(Triticum aestivum)
Liliopsida Ta.20760 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7268 34
  • 52 (a)
Species where no ortholog for HEXB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)

Evolution for HEXB Gene

Gene Tree for HEXB (if available)
Gene Tree for HEXB (if available)
Evolutionary constrained regions (ECRs) for HEXB: view image

Paralogs for HEXB Gene

Paralogs for HEXB Gene

(1) SIMAP similar genes for HEXB Gene using alignment to 6 proteins:

  • H0Y9B6_HUMAN
  • H0Y9M3_HUMAN
  • H0YA83_HUMAN
genes like me logo Genes that share paralogs with HEXB: view

Variants for HEXB Gene

Sequence variations from dbSNP and Humsavar for HEXB Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1005713328 uncertain-significance, Sandhoff disease 74,685,209(+) C/A 5_prime_UTR_variant, intron_variant
rs1057518709 uncertain-significance, Sandhoff disease 74,685,532(+) G/C coding_sequence_variant, intron_variant, missense_variant
rs1060499701 pathogenic, Sandhoff disease 74,685,559(+) G/A/C coding_sequence_variant, intron_variant, missense_variant
rs10805890 conflicting-interpretations-of-pathogenicity, benign, likely-benign, not specified, HEXB POLYMORPHISM, Sandhoff disease 74,697,056(+) A/G 5_prime_UTR_variant, coding_sequence_variant, missense_variant
rs114661695 likely-benign, uncertain-significance, not specified, Sandhoff disease 74,715,659(+) T/C coding_sequence_variant, synonymous_variant

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

Variant ID Type Subtype PubMed ID
esv21716 CNV loss 19812545
esv2730312 CNV deletion 23290073
esv3570193 CNV loss 25503493
esv3605432 CNV loss 21293372
esv3605433 CNV loss 21293372
esv3605434 CNV loss 21293372
esv3605435 CNV gain 21293372
nsv1143136 CNV tandem duplication 24896259
nsv1152700 CNV duplication 26484159
nsv521024 CNV loss 19592680
nsv598652 CNV loss 21841781
nsv598653 CNV loss 21841781

Variation tolerance for HEXB Gene

Residual Variation Intolerance Score: 42.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.74; 78.83% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HEXB Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for HEXB Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
sandhoff disease
  • gm2-gangliosidosis, type ii
tay-sachs disease
  • tsd
mucolipidosis iv
  • ml4
gangliosidosis gm2
  • gm>2< gangliosidosis
lung abscess
- elite association - COSMIC cancer census association via MalaCards
Search HEXB in MalaCards View complete list of genes associated with diseases


  • GM2-gangliosidosis 2 (GM2G2) [MIM:268800]: An autosomal recessive lysosomal storage disease marked by the accumulation of GM2 gangliosides in the neuronal cells. Clinically indistinguishable from GM2-gangliosidosis type 1, presenting startle reactions, early blindness, progressive motor and mental deterioration, macrocephaly and cherry-red spots on the macula. {ECO:0000269 PubMed:1531140, ECO:0000269 PubMed:1720305, ECO:0000269 PubMed:7557963, ECO:0000269 PubMed:7626071, ECO:0000269 PubMed:7633435, ECO:0000269 PubMed:8357844, ECO:0000269 PubMed:8950198, ECO:0000269 PubMed:9401004, ECO:0000269 PubMed:9694901, ECO:0000269 PubMed:9856491}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for HEXB Gene

Sandhoff disease;GM2 gangliosidosis II (HEXA & B deficiency)

Additional Disease Information for HEXB

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with HEXB: view

Publications for HEXB Gene

  1. Significance of two point mutations present in each HEXB allele of patients with adult GM2 gangliosidosis (Sandhoff disease) homozygosity for the Ile207-->Val substitution is not associated with a clinical or biochemical phenotype. (PMID: 8950198) Redonnet-Vernhet I … Levade T (Biochimica et biophysica acta 1996) 3 4 22 44 58
  2. Common HEXB polymorphisms reduce serum HexA and HexB enzymatic activities, potentially masking Tay-Sachs disease carrier identification. (PMID: 16352452) Vallance H … Kaback M (Molecular genetics and metabolism 2006) 3 22 44 58
  3. The X-ray crystal structure of human beta-hexosaminidase B provides new insights into Sandhoff disease. (PMID: 12706724) Maier T … Saenger W (Journal of molecular biology 2003) 3 4 22 58
  4. Complete analysis of the glycosylation and disulfide bond pattern of human beta-hexosaminidase B by MALDI-MS. (PMID: 11447134) Schuette CG … Sandhoff K (Glycobiology 2001) 3 4 22 58
  5. A Pro504 --> Ser substitution in the beta-subunit of beta-hexosaminidase A inhibits alpha-subunit hydrolysis of GM2 ganglioside, resulting in chronic Sandhoff disease. (PMID: 9694901) Hou Y … Mahuran D (The Journal of biological chemistry 1998) 3 4 22 58

Products for HEXB Gene

Sources for HEXB Gene

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