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HEXB Gene(Protein Coding)

Hexosaminidase Subunit Beta

GCID:
GC05P074640
GIFtS:
66
Genes Participants
UDN Logo

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
  • EC 3.2.1.52 4 61
  • HCC-7 3 4
  • Epididymis Secretory Protein Li 111 3
  • Beta-Hexosaminidase Beta-Subunit 3
  • Epididymis Luminal Protein 248 3
  • 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, Infantile, Juvenile, And Adult Forms and Tay-Sachs Disease. Among its related pathways are Innate Immune System and Glycosaminoglycan degradation. 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

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

Genomics for HEXB Gene

Products:

  1. Regulatory Element

Regulatory Elements for HEXB Gene

Enhancers for HEXB 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
GH05G074684 1.3 FANTOM5 ENCODE 9.9 +46.0 46045 3.7 CREB3L1 ARID4B SIN3A YY1 ZNF766 FOS SP3 SP5 ZHX2 JUNB RNU6-658P RNU6-1330P FAM169A HEXB GC05M074726 ENC1
GH05G074672 1.1 Ensembl ENCODE 6.2 +33.4 33377 0.8 CTCF ZNF644 ZIC2 RAD21 RFX5 GATA3 ZFHX2 ZBTB48 SCRT2 ZNF143 NSA2 RNU6-658P HEXB ENC1 GC05M074726
GH05G074676 0.5 ENCODE 6.7 +37.2 37229 1.0 JUND ZNF629 CEBPB FOS ATF2 HEXB ENC1 GC05M074726 RNU6-658P
GH05G074682 0.4 ENCODE 7.9 +43.4 43376 0.8 ZNF680 HEXB ENC1 RNU6-658P GC05M074726
GH05G074635 1.6 Ensembl ENCODE dbSUPER 0.7 0.0 -19 9.1 HDGF HNRNPUL1 FOXA2 MLX AGO1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ENC1 HEXB LINC01331
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HEXB on UCSC Golden Path with GeneCards custom track

Promoters for HEXB Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000182612 177 4001 HDGF HNRNPUL1 FOXA2 MLX AGO1 ARID4B SIN3A FEZF1 DMAP1 ZNF2

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

Genomic Location for HEXB Gene

Chromosome:
5
Start:
74,640,023 bp from pter
End:
74,722,647 bp from pter
Size:
82,625 bases
Orientation:
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 Structure • Gene Density

RefSeq DNA sequence for HEXB Gene

Proteins for HEXB Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

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

    Protein Symbol:
    P07686-HEXB_HUMAN
    Recommended name:
    Beta-hexosaminidase subunit beta
    Protein Accession:
    P07686

    Protein attributes for HEXB Gene

    Size:
    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.
    SequenceCaution:
    • 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

Protein Expression for HEXB Gene

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

Selected DME Specific Peptides for HEXB Gene

P07686:
  • HLGGDEV
  • PRLWPRA
  • DTSRHYLP
  • LRGLETFSQL
  • ARLRGIRV
  • EFDTPGHTLSWG
  • LSAPWYL

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.
  • Ubiquitination at isoforms=465
  • Glycosylation at posLast=8484, isoforms=142, posLast=190190, and posLast=327327
  • Modification sites at PhosphoSitePlus

Other Protein References for HEXB Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

Domains & Families for HEXB Gene

Protein Domains for HEXB Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for HEXB Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P07686

UniProtKB/Swiss-Prot:

HEXB_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 HEXB: view

No data available for Gene Families for HEXB Gene

Function for HEXB Gene

Products:

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

Molecular function for HEXB Gene

GENATLAS Biochemistry:
hexosaminidases A & B,beta polypeptide,lyposomal,hydrolyzing glycoproteins,glucosaminoglycans,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.

Enzyme Numbers (IUBMB) 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 IEA,TAS --
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 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

CRISPR Products

miRNA for HEXB Gene

miRTarBase miRNAs that target HEXB

Inhibitory RNA Products

Flow Cytometry 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

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 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 IDA 19946888
genes like me logo Genes that share ontologies with HEXB: view

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 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

Products:

  1. Drug

(9) Drugs for HEXB Gene - From: DrugBank, ApexBio, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
N-Acetyl-D-glucosamine Approved Nutra 0
(2r,3r,4s,5r)-2-Acetamido-3,4-Dihydroxy-5-Hydroxymethyl-Piperidinium Experimental Pharma Target 0
2-Acetamido-2-Deoxy-D-Glucono-1,5-Lactone Experimental Pharma Target 0
3ar,5r,6s,7r,7ar-5-Hydroxymethyl-2-Methyl-5,6,7,7a-Tetrahydro-3ah-Pyrano[3,2-D]Thiazole-6,7-Diol Experimental Pharma Target 0

(42) Additional Compounds for HEXB 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 HEXB 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 HEXB Gene

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

Transcripts for HEXB Gene

Products:

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

mRNA/cDNA for HEXB Gene

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

Unigene Clusters for HEXB Gene

Hexosaminidase B (beta polypeptide):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for HEXB Gene

GeneLoc Exon Structure for
HEXB
ECgene alternative splicing isoforms for
HEXB

Expression for HEXB Gene

Products:

  1. Primer

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

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

HEXB

SOURCE GeneReport for Unigene cluster for HEXB Gene:

Hs.69293

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
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • cranial nerve
  • ear
  • eye
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • skull
  • tongue
Thorax:
  • heart
  • heart valve
Abdomen:
  • intestine
  • large intestine
  • liver
  • small intestine
  • spleen
Pelvis:
  • anus
  • pelvis
  • penis
  • prostate
  • rectum
  • urinary bladder
General:
  • 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

Primer Products

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
chimpanzee
(Pan troglodytes)
 Mammalia HEXB 34 35
  • 99.28 (n)
dog
(Canis familiaris)
 Mammalia HEXB 34 35
  • 83.37 (n)
cow
(Bos Taurus)
 Mammalia HEXB 34
  • 81.08 (n)
-- 35
  • 72 (a)
 OneToMany
-- 35
  • 62 (a)
 OneToMany
mouse
(Mus musculus)
 Mammalia Hexb 34 16 35
  • 79.7 (n)
rat
(Rattus norvegicus)
 Mammalia Hexb 34
  • 79.51 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia HEXB 35
  • 67 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia HEXB 35
  • 64 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves HEXB 34 35
  • 69.44 (n)
lizard
(Anolis carolinensis)
 Reptilia HEXB 35
  • 60 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia hexb 34
  • 65.14 (n)
zebrafish
(Danio rerio)
 Actinopterygii hexa 34
  • 62.33 (n)
hexb 35
  • 59 (a)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP010056 34
  • 49.67 (n)
fruit fly
(Drosophila melanogaster)
 Insecta Hexo2 36 35
  • 34 (a)
Hexo1 36 35
  • 33 (a)
fdl 35
  • 24 (a)
 ManyToMany
worm
(Caenorhabditis elegans)
 Secernentea hex-1 34 35
  • 52.55 (n)
T14F9.3 36
  • 44 (a)
thale cress
(Arabidopsis thaliana)
 eudicotyledons HEXO1 34
  • 47.9 (n)
rice
(Oryza sativa)
 Liliopsida Os05g0115900 34
  • 49.23 (n)
Os.9285 34
wheat
(Triticum aestivum)
 Liliopsida Ta.20760 34
corn
(Zea mays)
 Liliopsida Zm.3467 34
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.7268 35
  • 52 (a)
 OneToMany
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

ENSEMBL:
Gene Tree for HEXB (if available)
TreeFam:
Gene Tree for HEXB (if available)

Paralogs for HEXB Gene

Paralogs for HEXB Gene

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

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 Sequence Context AA Info Type
rs28942073 Pathogenic, GM2-gangliosidosis 2 (GM2G2) [MIM:268800] 74,718,804(+) TGCGC(C/T)GGGCA reference, missense
rs820878 Pathogenic, GM2-gangliosidosis 2 (GM2G2) [MIM:268800] 74,685,445(+) GCTCT(C/T)GGTGA intron-variant, reference, missense
VAR_003250 GM2-gangliosidosis 2 (GM2G2) [MIM:268800]
VAR_003252 GM2-gangliosidosis 2 (GM2G2) [MIM:268800]
VAR_003253 GM2-gangliosidosis 2 (GM2G2) [MIM:268800]

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)

Relevant External Links for HEXB Gene

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

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

Disorders for HEXB Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
sandhoff disease, infantile, juvenile, and adult forms
  • sandhoff disease
tay-sachs disease
  • gm2-gangliosidosis, several forms
mucolipidosis iv
  • gangliosidosis
gangliosidosis gm2
  • gm>2< gangliosidosis
sphingolipidosis
  • sphingolipidoses
- elite association - COSMIC cancer census association via MalaCards
Search HEXB in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

HEXB_HUMAN
  • 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)

Relevant External Links for HEXB

Genetic Association Database (GAD)
HEXB
Human Genome Epidemiology (HuGE) Navigator
HEXB
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HEXB
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. (Biochim. Biophys. Acta 1996) 3 4 22 46 64
  2. Common HEXB polymorphisms reduce serum HexA and HexB enzymatic activities, potentially masking Tay-Sachs disease carrier identification. (PMID: 16352452) Vallance H. … Kaback M. (Mol. Genet. Metab. 2006) 3 22 46 64
  3. The X-ray crystal structure of human beta-hexosaminidase B provides new insights into Sandhoff disease. (PMID: 12706724) Maier T. … Saenger W. (J. Mol. Biol. 2003) 3 4 22 64
  4. Complete analysis of the glycosylation and disulfide bond pattern of human beta-hexosaminidase B by MALDI-MS. (PMID: 11447134) Schuette C.G. … Sandhoff K. (Glycobiology 2001) 3 4 22 64
  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. (J. Biol. Chem. 1998) 3 4 22 64

Products for HEXB Gene

Sources for HEXB Gene

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