GALNS Gene
protein-coding GIFtS: 62
GCID: GC16M088880
|
|
galactosamine (N-acetyl)-6-sulfate sulfatase
| |
Aliases
for GALNS gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Galactosamine (N-Acetyl)-6-Sulfate Sulfatase1 2 | | MPS4A2 5 | | GALNAC6S1 2 | | N-Acetylgalactosamine-6-Sulfatase1 | | GAS1 2 | | Chondroitinase3 | | Galactose-6-Sulfate Sulfatase2 3 | | Chondroitinsulfatase3 | | GalNAc6S Sulfatase2 3 | | Chondroitinase3 | | N-Acetylgalactosamine-6-Sulfate Sulfatase2 3 | | Chondroitinsulfatase3 | | EC 3.1.6.43 8 | | EC 3.1.68 |
Export aliases for GALNS gene to outside databasesPrevious GC identifers: GC16P080398 GC16P090059 GC16M088583 GC16M088624 GC16M087407 GC16M074577 |
Summaries
for GALNS 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 GALNS:
This gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation ofthe glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. Sequence alterations including point, missense andnonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme. Deficiencies of thisenzyme lead to Morquio A syndrome, a lysosomal storage disorder. (provided by RefSeq, Jul 2008)
Gene Wiki entry for GALNS (Galactosamine-6 sulfatase)
|
Genomic Views
for GALNS 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_000016.9 NC_018927.1 NT_010542.15
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the GALNS gene promoter:
Max1 Sp1 AML1a Pax-5 CUTL1 IRF-2 HOXA5 STAT3
Other transcription factors
Search SABiosciences Chromatin IP Primers for GALNS
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GALNS |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 16q24.3 Ensembl cytogenetic band: 16q24.3 HGNC cytogenetic band: 16q24.3GALNS Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 16 GeneLoc Exon Structure GeneLoc location for GC16M088880: view genomic region
(about GC identifiers)
Start:
|
88,880,142 bp from pter |
End:
|
88,923,378 bp from pter |
Size:
|
43,237 bases |
Orientation:
|
minus strand |
|
Proteins
for GALNS 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: GALNS_HUMAN, P34059 (See
protein sequence)Recommended Name: N-acetylgalactosamine-6-sulfatase precursor Size: 522 amino acids; 58026 Da
Cofactor: Binds 1 calcium ion per subunit (By similarity)
Subunit: Oligomer of disulfide linked 40- and 15 kDa polypeptides
Subcellular location: Lysosome
2 PDB 3D structures from  and Proteopedia  for GALNS:4FDI (3D)
4FDJ (3D)
Secondary accessions: Q86VK3Explore the universe of human proteins at neXtProt for GALNS: NX_P34059
Post-translational modifications:
The conversion to 3-oxoalanine (also known as C-formylglycine, FGly), of a serine or cysteine residue in prokaryotesand of a cysteine residue in eukaryotes, is critical for catalytic activity (By similarity)1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P34059
4/8 DME Specific Peptides for GALNS (P34059) (see all 8)
GALNS Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_000503.1
ENSEMBL proteins: ENSP00000268695 ENSP00000454484 ENSP00000457921 ENSP00000455174 ENSP00000455006 ENSP00000456884 ENSP00000438197 Reactome Protein details: P34059
Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table
GALNS for ontologies About GeneDecksing
GALNS Antibody Products:
Assay Products for GALNS: |
Protein
Domains /
Families
for GALNS gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
GALNS for domains About GeneDecksing
4 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry P34059ProtoNet protein and cluster: P34059 1 Blocks protein family: IPB000917 Sulfatase
UniProtKB/Swiss-Prot: GALNS_HUMAN, P34059Similarity: Belongs to the sulfatase family |
Function
for GALNS 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: GALNS_HUMAN, P34059Catalytic activity: Hydrolysis of the 6-sulfate groups of the N-acetyl-D-galactosamine 6-sulfate units of chondroitinsulfate and of the D-galactose 6-sulfate units of keratan sulfate Genatlas biochemistry entry for GALNS:acetyl-galactosamine-6-sulfate sulfatase,lysosomal,acting on keratan sulfate,stepwise degradation of glycosaminoglycans(mucopolysaccharides)
Enzyme Numbers (IUBMB): EC 3.1.6.41 2 EC 3.1.62
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 GALNS (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GALNS (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: GALNS (NM_000512) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for GALNS | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GALNS |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GALNS |
Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table
GALNS for ontologies About GeneDecksing
Animal Models:
Mouse knock-outs for GALNS: Galnstm1Toma Galnstm3Toma
5 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Galns):
GALNS for phenotypes About GeneDecksing
|
Pathways & Interactions
for GALNS 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 - 5/7 super-pathways (see all 7) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | MPS IIIC - Sanfilippo syndrome C | | | 2 | Metabolism | | | 3 | Disease | | | 4 | Lysosome | | | 5 | Glycosaminoglycan degradation | |
Pathway sources
See GeneCards unified pathways
Show all pathways
5/18 
Reactome Pathways for GALNS (see all 18)
3 
Kegg Pathways (Kegg details for GALNS):
GALNS for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for GALNS
STRING Interaction
Network Preview (showing 3 interactants - click image to see more details)
4 Interacting proteins for GALNS (P340593 ENSP000002686954) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 5 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005975 | carbohydrate metabolic process |
TAS | -- | | GO:0030203 | glycosaminoglycan metabolic process |
TAS | -- | | GO:0042339 | keratan sulfate metabolic process |
TAS | -- | | GO:0042340 | keratan sulfate catabolic process |
TAS | -- | | GO:0044281 | small molecule metabolic process |
TAS | -- |
GALNS for ontologies About GeneDecksing
|
Drugs & Compounds
for GALNS 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
|
GALNS for compounds About GeneDecksing
 Browse Tocris compounds for GALNS
6 HMDB Compounds for GALNS About this table
10/35 Novoseek chemical compound relationships for GALNS gene (see all 35) About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| n-acetylgalactosamine 6-sulfate |
98.6 |
105 |
1794986 (5), 19394256 (3), 12442278 (3), 1755850 (3) (see all 43) |
| galactose 6-sulfate |
90.4 |
10 |
1794986 (3), 9660054 (1), 10857789 (1), 12489154 (1) |
| chondroitin sulfate |
88.5 |
46 |
12630899 (3), 16831535 (3), 8174650 (1), 2324108 (1) (see all 28) |
| keratan sulfate |
82.8 |
24 |
8910459 (3), 12489154 (3), 18056156 (2), 17498992 (1) (see all 9) |
| dermatan sulfate |
82.6 |
14 |
12630899 (2), 12030585 (1), 8311553 (1), 7985792 (1) (see all 9) |
| sodium chlorate |
81.1 |
5 |
14705951 (1), 11801740 (1), 15144459 (1), 7605368 (1) (see all 5) |
| heparan sulfate |
79.7 |
15 |
1394971 (2), 17702986 (1), 10583162 (1), 10231373 (1) (see all 9) |
| beta-d-xyloside |
79.2 |
3 |
7522438 (1), 7775583 (1), 11720131 (1) |
| chondroitin |
79 |
4 |
16289010 (1), 18265142 (1), 15716629 (1), 18849565 (1) |
| glycosaminoglycan |
75.1 |
10 |
8240239 (2), 8948573 (1), 9507007 (1), 10507462 (1) (see all 8) |
Search CenterWatch for drugs/clinical trials and news about GALNS
|
Transcripts
for GALNS 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 GALNS gene: NM_000512.4 Unigene Cluster for GALNS: Galactosamine (N-acetyl)-6-sulfate sulfatase Hs.271383 [show with all ESTs]Unigene Representative Sequence: BC05068414 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000268695(uc002fly.4 uc010cid.3 uc002flz.4) ENST00000562593
ENST00000567525 ENST00000568613 ENST00000564263 ENST00000562931 ENST00000566563
ENST00000562831 ENST00000561812 ENST00000565364 ENST00000567779 ENST00000568311(uc002fma.3)
ENST00000569433 ENST00000542788
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GALNS (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GALNS (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: GALNS (NM_000512) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for GALNS | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GALNS |
Additional cDNA sequence: AK021488.1 AK294390.1 AK310392.1 AK312655.1 AY129021.1 BC007825.2 BC018027.1 BC050684.1 BC056151.1 15 DOTS entries: DT.409015 DT.403873 DT.100732581 DT.99988078 DT.100782460 DT.120681905 DT.100664658 DT.120681878 DT.91641378 DT.91763230 DT.120681909 DT.40199062 DT.40237631 DT.75121394 DT.91689762 24/148 AceView cDNA sequences (see all 148): AY129021 AW135679 CD364411 BC056151 BU175509 BG120673 BX103607 BF057173 AU279442 AI904578 BQ691657 BU625775 CB321704 CR620126 CF144454 BE875288 AI827843 BM768768 BC050684 CR592952 BC007825 AI188117 BM769352 AW204972
GeneLoc Exon Structure
|
Expression
for GALNS 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
| GALNS expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AACTGGGCAC
About this image
See GALNS Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for GALNS
SOURCE GeneReport for Unigene cluster: Hs.271383
SABiosciences Custom PCR Arrays for GALNS
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for GALNS
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat GALNS | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GALNS | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GALNS | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GALNS |
Orthologs
for GALNS 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 last universal common ancestor (LUCA).
Orthologs for GALNS gene from 5/18 species (see all 18) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
GALNS1 |
galactosamine (N-acetyl)-6-sulfate sulfatase |
75.68(n)
79.56(a) |
|
415848 XM_414208.3 XP_414208.1 |
lizard
(Anolis carolinensis) |
Reptilia |
GALNS6-- |
-- |
73(a)45(a) |
1 ↔ 1possible ortholog |
GL343948.1(22880-75179) GL344984.1(10385-13196) |
zebrafish
(Danio rerio) |
Actinopterygii |
Dr.132482 |
Transcribed sequence with weak similarity to protein more |
73.52(n) |
|
BI885263.1 |
worm
(Caenorhabditis elegans) |
Secernentea |
D1014.13 |
arylsulfatase |
33(a) |
|
V(8160224-8161279) -- |
E. coli
(Escherichia coli) |
Gamma proteobacteria |
ydeN6aslA6 |
acrylsulfatase-like enzyme |
19(a)18(a) |
possible ortholog1 ↔ many |
Chromosome(1578866-1580548) Chromosome(3982375-3984030) |
ENSEMBL Gene Tree for GALNS (if available)
TreeFam Gene Tree for GALNS (if available) |
Paralogs
for GALNS gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for GALNS gene
- ARSF2 ARSJ2 ARSI2 ARSG2 ARSA2 ARSH2 STS2 ARSB2
- ARSE2 ARSD2
5 SIMAP similar genes for GALNS using alignment to 7 protein entries: GALNS_HUMAN (see all proteins):FLJ00319 DKFZp686M2125 ARSG ARSA ARSD
GALNS for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for GALNS
PGOHUM00000262307
|
Genomic Variants
for GALNS 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 16 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for GALNS (88880142 - 88923378 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 9 variations for GALNS
6 CNVs: 59565 30015 59564 4976 30016 4975
3 Indels: 72687 72686 61548
Human Gene Mutation Database (HGMD): GALNS
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing GALNS |
|
Disorders
/ Diseases
for GALNS 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
|
GALNS for disorders About GeneDecksing
OMIM gene information: 612222
OMIM disorders: 253000
UniProtKB/Swiss-Prot: GALNS_HUMAN, P34059
Defects in GALNS are the cause of mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]; also known as Morquio Asyndrome. MPS4A is a form of mucopolysaccharidosis type 4, an autosomal recessive lysosomal storage diseasecharacterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate. Key clinical featuresinclude short stature, skeletal dysplasia, dental anomalies, and corneal clouding. Intelligence is normal and there isno direct central nervous system involvement, although the skeletal changes may result in neurologic complications.There is variable severity, but patients with the severe phenotype usually do not survive past the second or thirddecade of life
20/41  diseases for GALNS (see all 41): About MalaCardsbeta-ketothiolase deficiency spinal cord injury lysosomal storage disease gangliosidosis gm1
spondyloepiphyseal dysplasia congenita ketothiolase deficiency mucopolysaccharidosis mucopolysaccharidosis vi
corneal clouding mucopolysaccharidosis iv metachromatic leukodystrophy kniest dysplasia
pre-eclampsia gangliosidosis spondyloepiphyseal dysplasia larsen syndrome
weaver syndrome short stature goldenhar syndrome leukodystrophy
5 diseases from the University of Copenhagen DISEASES database for GALNS:Mucopolysaccharidosis Gangliosidosis Larsen syndrome Kniest dysplasia
Spondyloepiphyseal dysplasia congenita 10 Novoseek disease relationships for GALNS gene About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| mucopolysaccharidosis |
92.4 |
77 |
19373925 (3), 8829629 (2), 9385378 (2), 7607677 (2) (see all 37) |
| morquios syndrome |
91.2 |
38 |
19394256 (3), 8020961 (2), 8829629 (2), 1755850 (2) (see all 19) |
| mps iv a |
85.6 |
8 |
10699374 (3), 17264040 (2), 8020961 (1) |
| lysosomal storage diseases |
54.9 |
3 |
16837223 (1), 19394256 (1) |
| enzyme deficiency |
51.9 |
2 |
7795586 (1) |
| skeletal dysplasia |
37.8 |
1 |
8910459 (1) |
| scar |
23.1 |
5 |
17394547 (1), 18000864 (1), 18221191 (1) |
| cancer |
0.919 |
1 |
19578779 (1) |
| arthritis |
0 |
4 |
2194463 (2) |
| melanoma |
0 |
2 |
11290371 (1), 12519080 (1) |
Human Genome Epidemiology (HuGE) Navigator: GALNS (1 document)
Export disorders for GALNS gene to outside databases
|
Publications
for GALNS 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)
About This Section
|
PubMed articles for GALNS gene, integrated from 9 sources (see all 198):
(articles sorted by number of sources associating them with GALNS) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Morquio disease: isolation, characterization and expression of full- length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase. (PubMed id 1755850)1, 2, 3, 9 Tomatsu S.... Orii T. (1991)
- Heteroallelic missense mutations of the galactosamine-6-sulfate sulfatase (GALNS) gene in a mild form of Morquio disease (MPS IVA). (PubMed id 8826435)1, 2, 9 Cole D.E.C.... Orii T. (1996)
- Morquio A syndrome: cloning, sequence, and structure of the human N- acetylgalactosamine 6-sulfatase (GALNS) gene. (PubMed id 8001980)1, 2, 9 Morris C.P.... Scott H.S. (1994)
- Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A). (PubMed id 16287098)1, 2, 9 Tomatsu S.... Orii T. (2005)
- Mucopolysaccharidosis IVA: identification of a common missense mutation I113F in the N-Acetylgalactosamine-6-sulfate sulfatase gene. (PubMed id 7668283)1, 2, 9 Tomatsu S.... Orii T. (1995)
- Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotype. (PubMed id 9521421)1, 2, 9 Yamada N.... Orii T. (1998)
- Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene. (PubMed id 9375852)1, 2, 9 Tomatsu S.... Orii T. (1997)
- Mucopolysaccharidosis IVA: screening and identification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase gene. (PubMed id 7795586)1, 2, 9 Ogawa T.... Orii T. (1995)
- Identification of 31 novel mutations in the N-acetylgalactosamine-6- sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome. (PubMed id 9298823)1, 2, 9 Bunge S....Gal A. (1997)
- Mucopolysaccharidosis IVA: four new exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiency. (PubMed id 8651279)1, 2, 9 Tomatsu S.... Orii T. (1996)
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External Searches for GALNS gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing GALNS gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing GALNS gene
(According to HUGE)
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Specialized Databases showing GALNS 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 GALNS | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GALNS |
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| Patent Information for GALNS gene:
Search GeneIP for patents involving GALNS
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for GALNS 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
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| | |  | OriGene Antibodies for GALNS | | Browse OriGene shRNA RFPs | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for GALNS | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for GALNS | | | OriGene Protein Over-expression Lysate for GALNS | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for GALNS | | OriGene 3'-UTR Clone for GALNS | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GALNS | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GALNS | | | 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 GALNS | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for GALNS | | OriGene Custom Protein Services for GALNS | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat GALNS | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing GALNS | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GALNS | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GALNS | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GALNS | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GALNS |
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| | | | Search Tocris compounds for GALNS |
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 | | | GALNS Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GALNS |
|  |  |  | | | | ThermoFisher Antibody for GALNS |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GALNS |
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