The product of this gene is a lysosomal enzyme found in all cells. It is involved in the catabolism of heparin, heparan sulphate, and keratan sulphate. Deficiency of this enzyme results in the accumulation of undegraded substrate and the lysosomal storage disorder mucopolysaccharidosis type IIID (Sanfilippo D syndrome). Mucopolysaccharidosis type IIID is the least common of the... See more...

Aliases for GNS Gene

Aliases for GNS Gene

  • Glucosamine (N-Acetyl)-6-Sulfatase 2 3 5
  • N-Acetylglucosamine-6-Sulfatase 2 3 4
  • EC 3.1.6.14 4 50
  • G6S 3 4
  • Glucosamine -6-Sulfatase 3
  • Sanfilippo Disease IIID 2
  • Glucosamine-6-Sulfatase 4
  • EC 3.1.6 50
  • GNS 5

External Ids for GNS Gene

Previous GeneCards Identifiers for GNS Gene

  • GC12M064570
  • GC12M065075
  • GC12M064823
  • GC12M063396
  • GC12M063393
  • GC12M065107
  • GC12M062157

Summaries for GNS Gene

Entrez Gene Summary for GNS Gene

  • The product of this gene is a lysosomal enzyme found in all cells. It is involved in the catabolism of heparin, heparan sulphate, and keratan sulphate. Deficiency of this enzyme results in the accumulation of undegraded substrate and the lysosomal storage disorder mucopolysaccharidosis type IIID (Sanfilippo D syndrome). Mucopolysaccharidosis type IIID is the least common of the four subtypes of Sanfilippo syndrome. [provided by RefSeq, Jul 2008]

GeneCards Summary for GNS Gene

GNS (Glucosamine (N-Acetyl)-6-Sulfatase) is a Protein Coding gene. Diseases associated with GNS include Mucopolysaccharidosis, Type Iiid and Mucopolysaccharidosis Iii. Among its related pathways are Lysosome and Keratan sulfate/keratin metabolism. Gene Ontology (GO) annotations related to this gene include sulfuric ester hydrolase activity and N-acetylglucosamine-6-sulfatase activity. An important paralog of this gene is SULF2.

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GNS Gene

Genomics for GNS Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GNS Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J064756 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 273.3 +1.0 1007 4.5 SP1 ZNF207 ZNF600 IKZF1 ZNF580 ZNF10 POLR2A ZIC2 CHD4 YY1 GNS ENSG00000288591 TBC1D30 TBC1D30-001 TBK1 LEMD3 ENSG00000255566 ENSG00000250280 RF00017-1066 RASSF3
GH12J064752 Promoter/Enhancer 0.8 EPDnew ENCODE 273.3 +6.4 6371 1.2 JUND CEBPB NR2F2 CEBPG GNS RF00017-1066 RASSF3
GH12J064760 Enhancer 0.2 ENCODE 250.7 -1.6 -1555 0 GNS ENSG00000288591 SNODB1689 TBC1D30 TBC1D30-001 lnc-TBC1D30-4 WIF1
GH12J064778 Promoter/Enhancer 1.8 EPDnew FANTOM5 Ensembl ENCODE 20.1 -21.3 -21312 4.7 ZNF600 POLR2A ZIC2 CTCF ZNF639 ZNF341 ZEB1 MAX ZNF217 ELF1 lnc-GNS-5 TBC1D30 TBK1 GNS LEMD3 ENSG00000255566 PABPC1P4 RASSF3 HSALNG0091961 ENSG00000288591
GH12J064713 Enhancer 0.9 Ensembl ENCODE dbSUPER 36.9 +43.4 43430 6.8 MAFF ZNF316 MAFK SPI1 ZNF189 MAFG JUNB PKNOX1 CREB1 CREM piR-34116 piR-46334 GNS ENSG00000256670 RASSF3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GNS on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GNS

Top Transcription factor binding sites by QIAGEN in the GNS gene promoter:
  • FOXD1
  • Pax-2
  • Pax-2a
  • Pax-4a
  • Sox5
  • Sp1
  • Zic1

Genomic Locations for GNS Gene

Latest Assembly
chr12:64,713,445-64,759,431
(GRCh38/hg38)
Size:
45,987 bases
Orientation:
Minus strand

Previous Assembly
chr12:65,107,229-65,153,186
(GRCh37/hg19 by Entrez Gene)
Size:
45,958 bases
Orientation:
Minus strand

chr12:65,107,225-65,153,227
(GRCh37/hg19 by Ensembl)
Size:
46,003 bases
Orientation:
Minus strand

Genomic View for GNS Gene

Genes around GNS on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for GNS Gene

Proteins for GNS Gene

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

    Protein Symbol:
    P15586-GNS_HUMAN
    Recommended name:
    N-acetylglucosamine-6-sulfatase
    Protein Accession:
    P15586
    Secondary Accessions:
    • B4DYH8
    • Q53F05

    Protein attributes for GNS Gene

    Size:
    552 amino acids
    Molecular mass:
    62082 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for GNS Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GNS Gene

Selected DME Specific Peptides for GNS Gene

P15586:
  • NTYIFYTSDNGYHTGQFSLPIDKRQLYEFDIKVPLLVRGP
  • RWQTLLSVDDLVEKLVKRL
  • GKYLNEY
  • APRNKNFNIHGTNKHWLIRQAKTPMTNSSI
  • WQKIQEP
  • EPFFMMI
  • NLTWRSDVLVEYQGEGRNVTDPTCPSLSPGVSQCFPDCVC
  • SRASILTG
  • NSKYYNY
  • LGGMTPLKKTKALIGE
  • NIDLGPTILD

Post-translational modifications for GNS Gene

  • The form A (78 kDa) is processed by internal peptidase cleavage to a 32 kDa N-terminal species (form B) and a 48 kDa C-terminal species.
  • The conversion to 3-oxoalanine (also known as C-formylglycine, FGly), of a serine or cysteine residue in prokaryotes and of a cysteine residue in eukaryotes, is critical for catalytic activity.
  • Glycosylation at Asn111, Asn117, Asn183, Asn198, Asn210, Asn279, Asn317, Asn362, Asn387, Asn405, Asn422, Asn449, and Asn480
  • Ubiquitination at Lys125
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • GNS_HUMAN (796)

Other Protein References for GNS Gene

Domains & Families for GNS Gene

Gene Families for GNS Gene

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

Protein Domains for GNS Gene

Suggested Antigen Peptide Sequences for GNS Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ51090, highly similar to N-acetylglucosamine-6-sulfatase (EC 3.1.6.14) (B4DTT0_HUMAN)
  • cDNA FLJ54262, highly similar to N-acetylglucosamine-6-sulfatase (EC 3.1.6.14) (B4DYH8_HUMAN)
  • Glucosamine-6-sulfatase (GNS_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P15586

UniProtKB/Swiss-Prot:

GNS_HUMAN :
  • Belongs to the sulfatase family.
Family:
  • Belongs to the sulfatase family.
genes like me logo Genes that share domains with GNS: view

Function for GNS Gene

Molecular function for GNS Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Hydrolysis of the 6-sulfate groups of the N-acetyl-D-glucosamine 6-sulfate units of heparan sulfate and keratan sulfate.; EC=3.1.6.14;.
GENATLAS Biochemistry:
N-acetyl-glucosamine-6-sulfate sulfatase,lysosomal,acting an heparan sulfate,catalyzing the third step of degradation of glycosaminoglycans (mucopolysaccharides)

Enzyme Numbers (IUBMB) for GNS Gene

Phenotypes From GWAS Catalog for GNS Gene

Gene Ontology (GO) - Molecular Function for GNS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0005515 protein binding IPI 17474147
GO:0005539 glycosaminoglycan binding IBA 21873635
GO:0008449 N-acetylglucosamine-6-sulfatase activity IEA,TAS --
GO:0008484 sulfuric ester hydrolase activity IEA,IDA 15962010
genes like me logo Genes that share ontologies with GNS: view
genes like me logo Genes that share phenotypes with GNS: view

Human Phenotype Ontology for GNS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GNS Gene

MGI Knock Outs for GNS:
  • Gns Gns<tm1e(EUCOMM)Hmgu>

miRNA for GNS Gene

miRTarBase miRNAs that target GNS

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GNS

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

Localization for GNS Gene

Subcellular locations from UniProtKB/Swiss-Prot for GNS 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 GNS gene
Compartment Confidence
lysosome 5
extracellular 4
plasma membrane 2
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
endosome 1
cytosol 1
golgi apparatus 0

Gene Ontology (GO) - Cellular Components for GNS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005764 lysosome IEA --
GO:0035578 azurophil granule lumen TAS --
GO:0043202 lysosomal lumen TAS --
GO:0070062 extracellular exosome HDA 23533145
genes like me logo Genes that share ontologies with GNS: view

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

Pathways & Interactions for GNS Gene

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

Gene Ontology (GO) - Biological Process for GNS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006027 glycosaminoglycan catabolic process TAS 3689315
GO:0030203 glycosaminoglycan metabolic process IEA --
GO:0042340 keratan sulfate catabolic process TAS --
GO:0043312 neutrophil degranulation TAS --
genes like me logo Genes that share ontologies with GNS: view

No data available for SIGNOR curated interactions for GNS Gene

Drugs & Compounds for GNS Gene

(4) Drugs for GNS Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Sulfate Experimental, Investigational Pharma 0
Calcium Nutra 6959

(3) Additional Compounds for GNS Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Keratan
  • Keratan 6'-sulfate
  • Keratan 6'-sulphate
  • Keratan sulfate
  • Keratan sulphate
  • Kerato 6'-sulfate
69992-87-6
genes like me logo Genes that share compounds with GNS: view

Transcripts for GNS Gene

mRNA/cDNA for GNS Gene

1 REFSEQ mRNAs :
21 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GNS

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

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16a · 16b
SP1: - - - - -
SP2:
SP3:
SP4:
SP5: - -
SP6:

Relevant External Links for GNS Gene

GeneLoc Exon Structure for
GNS

Expression for GNS Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GNS Gene

This gene is overexpressed in Adrenal Gland (x5.5) and Whole Blood (x4.2).

Protein differential expression in normal tissues from HIPED for GNS Gene

This gene is overexpressed in Amniocyte (18.0) and Urine (8.3).

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



Protein tissue co-expression partners for GNS Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GNS

SOURCE GeneReport for Unigene cluster for GNS Gene:

Hs.334534

Evidence on tissue expression from TISSUES for GNS Gene

  • Nervous system(4.6)
  • Heart(4.4)
  • Liver(4.4)
  • Kidney(2.6)
  • Skin(2.2)
  • Lung(2.2)
  • Intestine(2.1)
  • Muscle(2.1)
  • Blood(2.1)
  • Spleen(2)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • salivary gland
  • skull
Thorax:
  • chest wall
  • clavicle
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • trachea
Abdomen:
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
  • spleen
  • stomach
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with GNS: view

No data available for mRNA Expression by UniProt/SwissProt for GNS Gene

Orthologs for GNS Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for GNS Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GNS 29 30
  • 99.7 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia GNS 29 30
  • 91.65 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GNS 29 30
  • 90.16 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia GNS 30
  • 90 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gns 29
  • 86.19 (n)
Mouse
(Mus musculus)
Mammalia Gns 29 16 30
  • 83.46 (n)
OneToOne
Chicken
(Gallus gallus)
Aves GNS 29 30
  • 78.04 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia GNS 30
  • 81 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia gns 29
  • 72.43 (n)
Str.8976 29
African clawed frog
(Xenopus laevis)
Amphibia gns-prov 29
Zebrafish
(Danio rerio)
Actinopterygii gnsa 29 30
  • 69.74 (n)
OneToOne
wufi20h10 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004721 29
  • 51.46 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG18278 29 30 31
  • 50.64 (n)
OneToMany
CG30059 30
  • 44 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 56 (a)
OneToOne
Bread mold
(Neurospora crassa)
Ascomycetes NCU06041 29
  • 41.56 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.14329 29
Species where no ortholog for GNS was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • 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)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for GNS Gene

ENSEMBL:
Gene Tree for GNS (if available)
TreeFam:
Gene Tree for GNS (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GNS: view image
Alliance of Genome Resources:
Additional Orthologs for GNS

Paralogs for GNS Gene

(4) SIMAP similar genes for GNS Gene using alignment to 6 proteins:

  • GNS_HUMAN
  • B4DYH8_HUMAN
  • F5H4C6_HUMAN
  • F6S8M0_HUMAN
  • H0YFA9_HUMAN
  • H7C3P4_HUMAN
genes like me logo Genes that share paralogs with GNS: view

Variants for GNS Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GNS Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
1002543 Uncertain Significance: Mucopolysaccharidosis, MPS-III-D 64,716,782(-) C/T
NM_002076.4(GNS):c.1618G>A (p.Gly540Ser)
MISSENSE
1008594 Uncertain Significance: Mucopolysaccharidosis, MPS-III-D 64,729,009(-) C/T
NM_002076.4(GNS):c.1147G>A (p.Gly383Ser)
MISSENSE
1018787 Uncertain Significance: Mucopolysaccharidosis, MPS-III-D 64,759,117(-) T/C
NM_002076.4(GNS):c.160A>G (p.Thr54Ala)
MISSENSE
1023587 Uncertain Significance: Mucopolysaccharidosis, MPS-III-D 64,744,828(-) T/A
NM_002076.4(GNS):c.605A>T (p.Asp202Val)
MISSENSE
1024560 Uncertain Significance: Mucopolysaccharidosis, MPS-III-D 64,716,820(-) C/T
NM_002076.4(GNS):c.1581-1G>A
SPLICE_ACCEPTOR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for GNS Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
dgv2682n54 CNV gain 21841781
dgv823n106 CNV deletion 24896259
esv2089729 CNV deletion 18987734
esv2494968 CNV deletion 19546169
esv2586961 CNV deletion 19546169
esv2745992 CNV deletion 23290073
esv2745993 CNV deletion 23290073
esv2939 CNV loss 18987735
esv3549318 CNV deletion 23714750
nsv1070114 CNV deletion 25765185
nsv832444 CNV loss 17160897
nsv958674 CNV deletion 24416366

Variation tolerance for GNS Gene

Residual Variation Intolerance Score: 8.89% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.13; 61.40% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GNS Gene

Human Gene Mutation Database (HGMD)
GNS
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GNS
Leiden Open Variation Database (LOVD)
GNS

SNP Genotyping and Copy Number Assays for research

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

Disorders for GNS Gene

MalaCards: The human disease database

(19) MalaCards diseases for GNS Gene - From: OMI, CVR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
mucopolysaccharidosis, type iiid
  • mps3d
mucopolysaccharidosis iii
  • heparan sulfate sulfatase deficiency
mucopolysaccharidosis-plus syndrome
  • mpsps
mucopolysaccharidosis, type iiic
  • mps3c
scheie syndrome
  • mucopolysaccharidosis type is; mps1-s
- elite association - COSMIC cancer census association via MalaCards
Search GNS in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GNS_HUMAN
  • Mucopolysaccharidosis 3D (MPS3D) [MIM:252940]: A form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. {ECO:0000269 PubMed:12573255, ECO:0000269 PubMed:20232353}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for GNS

genes like me logo Genes that share disorders with GNS: view

No data available for Genatlas for GNS Gene

Publications for GNS Gene

  1. Genomic basis of mucopolysaccharidosis type IIID (MIM 252940) revealed by sequencing of GNS encoding N-acetylglucosamine-6-sulfatase. (PMID: 12573255) Mok A … Hegele RA (Genomics 2003) 3 4 22 72
  2. Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations. (PMID: 20232353) Valstar MJ … van Diggelen OP (Human mutation 2010) 3 4 22
  3. Sanfilippo syndrome type D: natural history and identification of 3 novel mutations in the GNS Gene. (PMID: 17998446) Jansen AC … Andermann E (Archives of neurology 2007) 3 22 72
  4. A novel loss-of-function mutation in the GNS gene causes Sanfilippo syndrome type D. (PMID: 19650410) Elçioglu NH … Wollnik B (Genetic counseling (Geneva, Switzerland) 2009) 3 22
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for GNS Gene

Sources for GNS Gene