HEXA Gene
protein-coding GIFtS: 66
GCID: GC15M072635
|
|
hexosaminidase A (alpha polypeptide)
| |
Aliases
for HEXA gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Hexosaminidase A (Alpha Polypeptide)1 2 | | EC 3.2.1.523 8 | | Beta-N-Acetylhexosaminidase Subunit Alpha2 3 | | TSD2 5 | | Hexosaminidase Subunit A2 3 | | Beta-Hexosaminidase Subunit Alpha2 | | N-Acetyl-Beta-Glucosaminidase Subunit Alpha2 3 | | EC 3.2.18 |
Export aliases for HEXA gene to outside databasesPrevious GC identifers: GC15M068437 GC15M065740 GC15M070211 GC15M070351 GC15M070422 GC15M049466 |
Summaries
for HEXA gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for HEXA:
This gene encodes the alpha subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetylhexosamines. 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 thealpha or beta subunit genes lead to an accumulation of GM2 ganglioside in neurons and neurodegenerative disorderstermed the GM2 gangliosidoses. Alpha subunit gene mutations lead to Tay-Sachs disease (GM2-gangliosidosis type I).(provided by RefSeq, Jul 2009)
UniProtKB/Swiss-Prot: HEXA_HUMAN, P06865Function: Responsible for the degradation of GM2 gangliosides, and a variety of other molecules containing terminalN-acetyl hexosamines, in the brain and other tissues. The form B is active against certain oligosaccharides. The formS has no measurable activity
Gene Wiki entry for HEXA
|
Genomic Views
for HEXA gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000015.9 NC_018926.1 NT_010194.17
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the HEXA gene promoter:
RFX1 USF1 p53 HTF USF2 USF-1:USF-2 USF-1 ARP-1 ATF6
Other transcription factors
Search SABiosciences Chromatin IP Primers for HEXA
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HEXA |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 15q24.1 Ensembl cytogenetic band: 15q23 HGNC cytogenetic band: 15q24.1HEXA Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 15 GeneLoc Exon Structure GeneLoc location for GC15M072635: view genomic region
(about GC identifiers)
Start:
|
72,635,775 bp from pter |
End:
|
72,668,817 bp from pter |
Size:
|
33,043 bases |
Orientation:
|
minus strand |
|
Proteins
for HEXA gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: HEXA_HUMAN, P06865 (See
protein sequence)Recommended Name: Beta-hexosaminidase subunit alpha precursor Size: 529 amino acids; 60703 Da
Subunit: There are 3 forms of beta-hexosaminidase: hexosaminidase A is a trimer composed of one subunit alpha, onesubunit beta chain A and one subunit beta chain B; hexosaminidase B is a tetramer of two subunit beta chains A and twosubunit beta chains B; hexosaminidase S is a homodimer of two alpha subunits. The two beta chains are derived from thecleavage of the beta subunit
Subcellular location: Lysosome
3 PDB 3D structures from  and Proteopedia  for HEXA:1QBC (3D)
2GJX (3D)
2GK1 (3D)
Secondary accessions: Q53HS8 Q6AI32Explore the universe of human proteins at neXtProt for HEXA: NX_P06865
Post-translational modifications:
N-linked glycan at Asn-115 consists of Man(3)-GlcNAc(2)1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P06865
4/14 DME Specific Peptides for HEXA (P06865) (see all 14)
HEXA Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_000511.2
ENSEMBL proteins: ENSP00000268097 ENSP00000455545 ENSP00000455114 ENSP00000457521 ENSP00000456489 ENSP00000456346 ENSP00000457037 ENSP00000457125 ENSP00000458128 ENSP00000416187 ENSP00000398026 Reactome Protein details: P06865
Human Recombinant Protein Products:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
HEXA for ontologies About GeneDecksing
HEXA Antibody Products:
Assay Products for HEXA: |
Protein
Domains /
Families
for HEXA gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
HEXA for domains About GeneDecksing
5 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry P06865ProtoNet protein and cluster: P06865 1 Blocks protein family: IPB001540 Glycosyl hydrolase family 20 signature
UniProtKB/Swiss-Prot: HEXA_HUMAN, P06865Similarity: Belongs to the glycosyl hydrolase 20 family |
Function
for HEXA gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: HEXA_HUMAN, P06865Function: Responsible for the degradation of GM2 gangliosides, and a variety of other molecules containing terminalN-acetyl hexosamines, in the brain and other tissues. The form B is active against certain oligosaccharides. The formS has no measurable activityCatalytic activity: Hydrolysis of terminal non-reducing N-acetyl-D-hexosamine residues in N-acetyl-beta-D-hexosaminides Genatlas biochemistry entry for HEXA:hexosaminidase A,alpha polypeptide,lysosomal,catalyzing the degradation of glycosphingolipids with terminalalpha-galactosyl residues in most non neuronal tissues and in body fluids,hydrolyzing gangliosideGM2,glycoproteins,glycosamino-glycans,glycolipids
Enzyme Numbers (IUBMB): EC 3.2.1.521 2 EC 3.2.12
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HEXA (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HEXA (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: HEXA (NM_000520) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for HEXA | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HEXA |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HEXA |
Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0004553 | hydrolase activity, hydrolyzing O-glycosyl compounds |
-- | -- | | GO:0004563 | beta-N-acetylhexosaminidase activity |
IEA | -- | | GO:0043169 | cation binding |
IEA | -- | | GO:0046982 | protein heterodimerization activity |
IDA | 6230359 |
HEXA for ontologies About GeneDecksing
Animal Models:
Mouse knock-outs for HEXA: Hexatm1Grv Hexatm1Cota Hexatm1Rlp
13 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Hexa):
HEXA for phenotypes About GeneDecksing
|
Pathways & Interactions
for HEXA gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/15 super-pathways (see all 15) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | MPS IIIC - Sanfilippo syndrome C | | | 2 | Metabolism | | | 3 | Sphingolipid metabolism | | | 4 | Hyaluronan uptake and degradation | | | 5 | Disease | |
Pathway sources
See GeneCards unified pathways
Show all pathways
5/25 
Reactome Pathways for HEXA (see all 25)
5/7 
Kegg Pathways (Kegg details for HEXA) (see all 7):
HEXA for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for HEXA
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/26 Interacting proteins for HEXA (P068651, 2, 3 ENSP000002680974) via UniProtKB, MINT, STRING, and/or I2D (see all 26)| Interactant | Interaction Details |
|---|
| GeneCard | External ID(s) |
|---|
| ABL1 | P005191, 3, ENSP000003614234 | EBI-723519,EBI-375543 I2D:
score=1 STRING: ENSP00000361423 | | CRK | P461081, 3, ENSP000003005744 | EBI-723519,EBI-886 I2D:
score=1 STRING: ENSP00000300574 | | FYN | P062411, 3, ENSP000003576564 | EBI-723519,EBI-515315 I2D:
score=1 STRING: ENSP00000357656 | | USP22 | Q9UPT92, 3, ENSP000002614974 | MINT-65788 I2D:
score=4 STRING: ENSP00000261497 | | GM2A | P179003, ENSP000003496874 | I2D:
score=3 STRING: ENSP00000349687 |
About this table
Gene Ontology (GO): 5/25 biological process terms (GO ID links to tree view) (see all 25): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0001501 | skeletal system development |
IEA | -- | | GO:0005975 | carbohydrate metabolic process |
TAS | -- | | GO:0006644 | phospholipid metabolic process |
TAS | -- | | GO:0006665 | sphingolipid metabolic process |
TAS | -- | | GO:0006687 | glycosphingolipid metabolic process |
TAS | -- |
HEXA for ontologies About GeneDecksing
|
Drugs & Compounds
for HEXA gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
HEXA for compounds About GeneDecksing
 Compounds for HEXA available from Tocris Bioscience About this table
| Compound | Action |
CAS
# |
|---|
| (Z)-Pugnac | O-GlcNAcase and beta-hexosaminidase inhibitor | [132489-69-1] |
10/55 HMDB Compounds for HEXA (see all 55) About this table
10/15 Novoseek chemical compound relationships for HEXA gene (see all 15) About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| g(m2) ganglioside |
91.6 |
3 |
2174089 (1), 18693054 (1), 18642377 (1) |
| 4mugs |
88.4 |
2 |
8403628 (1) |
| ganglioside |
82.1 |
21 |
8995368 (1), 9153525 (1), 16092933 (1), 8634145 (1) (see all 19) |
| asialo gm2 |
67.4 |
1 |
10497228 (1) |
| cerebroside |
51.1 |
1 |
15275696 (1) |
| n-acetylglucosamine |
50.7 |
3 |
16092933 (1), 10231373 (1), 1837501 (1) |
| deae-cellulose |
49.5 |
2 |
11074069 (1), 1837780 (1) |
| mannose 6-phosphate |
43.9 |
8 |
17557860 (2), 16092933 (1), 9536087 (1) |
| glycolipid |
42.4 |
1 |
10571007 (1) |
| glucuronic acid |
16.8 |
3 |
9643539 (1), 10231373 (1) |
Search CenterWatch for drugs/clinical trials and news about HEXA
|
Transcripts
for HEXA gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for HEXA gene: NM_000520.4 Unigene Clusters for HEXA: Hexosaminidase A (alpha polypeptide) Hs.604479 [show with all ESTs], Hs.709495 [show with all ESTs]Unigene Representative Sequences: BX537989, BC03442418 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000268097(uc010ukn.2 uc002aun.4 uc010bix.3 uc010biy.2 uc010uko.1)
ENST00000565873 ENST00000564677 ENST00000567411 ENST00000566304 ENST00000569116
ENST00000567027 ENST00000568777 ENST00000567159 ENST00000563762 ENST00000566672
ENST00000569410 ENST00000569509 ENST00000568260 ENST00000563908 ENST00000567213
ENST00000429918 ENST00000457859
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HEXA (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HEXA (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: HEXA (NM_000520) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for HEXA | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HEXA |
Additional cDNA sequence: BC034424.1 24/31 DOTS entries (see all 31): DT.448889 DT.99984787 DT.91645381 DT.99978133 DT.100887702 DT.410867 DT.100887698 DT.121081476 DT.100887708 DT.121081433 DT.121081458 DT.85104534 DT.92455160 DT.100842161 DT.100887699 DT.100887700 DT.100887704 DT.121081430 DT.121081452 DT.121081516 DT.91741871 DT.92455161 DT.95130255 DT.95266747 2 AceView cDNA sequences: BC034424 BG719867
GeneLoc Exon Structure
|
Expression
for HEXA gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| HEXA expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AGCACATTCT
About this image
See HEXA Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for HEXA
SOURCE GeneReport for Unigene clusters: Hs.604479 Hs.709495
SABiosciences Expression via Pathway-Focused PCR Array including HEXA:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HEXA
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat HEXA | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HEXA | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HEXA | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HEXA |
Orthologs
for HEXA gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for HEXA gene from 8/24 species (see all 24) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
HEXA1 |
hexosaminidase A (alpha polypeptide) |
68.95(n)
67.71(a) |
|
415320 NM_001030390.1 NP_001025561.1 |
lizard
(Anolis carolinensis) |
Reptilia |
HEXA6 |
-- |
63(a) |
1 ↔ 1 |
GL343872.1(106972-129071) |
tropical clawed frog
(Xenopus tropicalis) |
Amphibia |
BX706957.12 |
-- |
72.51(n) |
|
BX706957.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
wufc04h112 |
Transcribed sequence with weak similarity to protein more |
73.96(n) |
|
CF998279.1 |
honey bee
(Apis mellifera) |
Insecta |
---- |
-- |
23(a)14(a) |
possible orthologpossible ortholog |
GroupUn.783(45866-48528) Group9.5(248982-260929) |
worm
(Caenorhabditis elegans) |
Secernentea |
T14F9.33 |
beta-hexosaminidase beta subunit |
41(a) |
|
X(2258788-2261813) -- |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
HEXO31 |
beta-hexosaminidase 3 |
48.74(n)
42.86(a) |
|
842871 NM_105233.4 NP_176737.2 |
rice
(Oryza sativa) |
Liliopsida |
Os01g08910001 |
hypothetical protein |
48.12(n)
40.26(a) |
|
4324914 NM_001051587.1 NP_001045052.1 |
ENSEMBL Gene Tree for HEXA (if available)
TreeFam Gene Tree for HEXA (if available) |
Paralogs
for HEXA gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for HEXA gene
- HEXB2
1 SIMAP similar gene for HEXA using alignment to 23 protein entries: HEXA_HUMAN (see all proteins):HEXB
HEXA for paralogs About GeneDecksing
|
Genomic Variants
for HEXA gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 15 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for HEXA (72635775 - 72668817 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for HEXA
1 CNV: 102135
1 Inversion: 37169
Human Gene Mutation Database (HGMD): HEXA
Locus Specific Mutation Databases (LSDB): HEXA
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HEXA |
|
Disorders
/ Diseases
for HEXA gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
HEXA for disorders About GeneDecksing
OMIM gene information: 606869
OMIM disorders: 272800
UniProtKB/Swiss-Prot: HEXA_HUMAN, P06865
Defects in HEXA are the cause of GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]; also known as Tay-Sachsdisease. GM2-gangliosidosis is an autosomal recessive lysosomal storage disease marked by the accumulation of GM2gangliosides in the neuronal cells. GM2G1 is characterized by GM2 gangliosides accumulation in the absence of HEXAactivity, leading to neurodegeneration and, in the infantile form, death in early childhood. GM2G1 has an increasedincidence among Ashkenazi Jews and French Canadians in eastern Quebec. It exists in several forms: infantile (mostcommon and most severe), juvenile and adult (late onset)
20/54  diseases for HEXA (see all 54): About MalaCardstay-sachs disease gangliosidosis hex a pseudodeficiency gangliosidosis gm1
hallervorden-spatz syndrome spinal muscular atrophy niemann-pick disease lysosomal storage disease
internuclear ophthalmoplegia mucolipidosis iv amyotrophic lateral sclerosis sensory peripheral neuropathy
metachromatic leukodystrophy sandhoff disease muscular atrophy mannosidase deficiency disease
cerebral lipidosis lateral sclerosis motor neuron disease peripheral neuropathy
10 diseases from the University of Copenhagen DISEASES database for HEXA:Gangliosidosis Fucosidosis alpha-mannosidosis Metachromatic leukodystrophy
Cerebral lipidosis Niemann-Pick disease Gaucher's disease Mucolipidosis
Mucopolysaccharidosis Krabbe disease 10/23 Novoseek disease relationships for HEXA gene (see all 23) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| tay-sachs disease |
98.6 |
99 |
10852376 (2), 14566483 (2), 2136940 (2), 14972652 (2) (see all 72) |
| gm2 gangliosidosis |
96.7 |
27 |
9153525 (3), 11339652 (3), 18648917 (2), 7732608 (1) (see all 21) |
| sandhoff disease |
95.2 |
20 |
2122616 (1), 8530938 (1), 16092933 (1), 8634145 (1) (see all 20) |
| gangliosidosis |
92.5 |
10 |
9603435 (2), 8995368 (1), 9821868 (1), 14997456 (1) (see all 8) |
| lysosomal storage diseases |
78.4 |
6 |
16092933 (1), 17557860 (1), 8875224 (1), 1424119 (1) (see all 6) |
| gangliosidosis gm1 |
67.8 |
2 |
14997456 (1), 15275696 (1) |
| motor neuron disease |
55.3 |
3 |
8530938 (1), 11460829 (1), 2100033 (1) |
| gaucher disease |
53.8 |
3 |
9554684 (1), 15275696 (1), 7973467 (1) |
| muscular atrophy spinal |
48.6 |
4 |
9153525 (1), 11460829 (1), 7898712 (1), 10434678 (1) |
| neurodegenerative diseases |
44.4 |
8 |
1387862 (1), 8634145 (1), 10196372 (1), 16441513 (1) (see all 6) |
Genatlas disease: HEXA Tay-Sachs disease;GM2 gangliosidosis I,infantile,juvenile,adult types (HEXA deficiency,including B1 variant)
GeneTests: HEXA
Hexosaminidase A Deficiency
Genetic Association Database (GAD): HEXA
Human Genome Epidemiology (HuGE) Navigator: HEXA (7 documents)
Export disorders for HEXA gene to outside databases
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Publications
for HEXA gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
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|
PubMed articles for HEXA gene, integrated from 9 sources (see all 250):
(articles sorted by number of sources associating them with HEXA) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- A new mutation in the HEXA gene associated with a spinal muscular atrophy phenotype. (PubMed id 7898712)1, 2, 4, 9 Navon R.... Rondot P. (1995)
- A second mutation associated with apparent beta-hexosaminidase A pseudodeficiency: identification and frequency estimation. (PubMed id 7902672)1, 2, 4, 9 Cao Z.... Triggs-Raine B.L. (1993)
- W474C amino acid substitution affects early processing of the alpha- subunit of beta-hexosaminidase A and is associated with subacute G(M2) gangliosidosis. (PubMed id 9603435)1, 2, 4, 9 Petroulakis E....Triggs-Raine B. (1998)
- Organization of the gene encoding the human beta-hexosaminidase alpha-chain. (PubMed id 2952641)1, 2, 3 Proia R.L. and Soravia E. (1987)
- Isolation of cDNA clones coding for the alpha-subunit of human beta-hexosaminidase. Extensive homology between the alpha- and beta-subunits and studies on Tay-Sachs disease. (PubMed id 3013851)1, 2, 3 Korneluk R.G....Gravel R.A. (1986)
- GM2 gangliosidosis B1 variant: biochemical and molecular characterization of hexosaminidase A. (PubMed id 8581357)1, 2, 9 Peleg L.... Goldman B. (1995)
- Tay-Sachs disease and HEXA mutations among Moroccan Jews. (PubMed id 9338583)1, 2, 9 Kaufman M.... Navon R. (1997)
- 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. (PubMed id 14566483)1, 2, 9 Tanaka A.... Yamano T. (2003)
- Six novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individuals. (PubMed id 1532289)1, 2, 9 Mules E.H.... Thomas G.H. (1992)
- A glycine250--> aspartate substitution in the alpha-subunit of hexosaminidase A causes juvenile-onset Tay-Sachs disease in a Lebanese-Canadian family. (PubMed id 1301189)1, 2, 9 Trop I.... Hechtman P. (1992)
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External Searches for HEXA gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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|
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Genome Databases showing HEXA gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing HEXA gene
(According to HUGE)
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| -- |
Specialized Databases showing HEXA gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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|
| Name | Description |
| PharmGKB entry for HEXA | Pharmacogenomics, SNPs, Pathways | | HEXAdb | http://www.hexdb.mcgill.ca/?Topic=HEXAdb | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HEXA |
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About This Section
| Patent Information for HEXA gene:
Search GeneIP for patents involving HEXA
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for HEXA gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
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| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for HEXA | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HEXA | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HEXA | | | OriGene Protein Over-expression Lysate for HEXA | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for HEXA | | OriGene 3'-UTR Clone for HEXA | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HEXA | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HEXA | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for HEXA | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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|  |  |  | | | | Search ThermoFisher Antibodies for HEXA |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HEXA |
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