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Aliases for HGSNAT Gene

Aliases for HGSNAT Gene

  • Heparan-Alpha-Glucosaminide N-Acetyltransferase 2 3 5
  • Transmembrane Protein 76 2 3 4
  • TMEM76 3 4
  • EC 2.3.1.78 4
  • HGNAT 3
  • MPS3C 3
  • RP73 3

External Ids for HGSNAT Gene

Previous HGNC Symbols for HGSNAT Gene

  • TMEM76

Previous GeneCards Identifiers for HGSNAT Gene

  • GC08P043117
  • GC08P042995
  • GC08P041520

Summaries for HGSNAT Gene

Entrez Gene Summary for HGSNAT Gene

  • This gene encodes a lysosomal acetyltransferase, which is one of several enzymes involved in the lysosomal degradation of heparin sulfate. Mutations in this gene are associated with Sanfilippo syndrome C, one type of the lysosomal storage disease mucopolysaccaridosis III, which results from impaired degradation of heparan sulfate. [provided by RefSeq, Jan 2009]

GeneCards Summary for HGSNAT Gene

HGSNAT (Heparan-Alpha-Glucosaminide N-Acetyltransferase) is a Protein Coding gene. Diseases associated with HGSNAT include Mucopolysaccharidosis Type Iiic and Retinitis Pigmentosa 73. Among its related pathways are Metabolism and Glycosaminoglycan degradation. GO annotations related to this gene include transferase activity, transferring acyl groups and heparan-alpha-glucosaminide N-acetyltransferase activity.

UniProtKB/Swiss-Prot for HGSNAT Gene

  • Lysosomal acetyltransferase that acetylates the non-reducing terminal alpha-glucosamine residue of intralysosomal heparin or heparan sulfate, converting it into a substrate for luminal alpha-N-acetyl glucosaminidase.

Gene Wiki entry for HGSNAT Gene

Additional gene information for HGSNAT Gene

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

Genomics for HGSNAT Gene

Regulatory Elements for HGSNAT Gene

Enhancers for HGSNAT 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
GH08H043054 1.2 ENCODE 31.9 -83.9 -83914 3 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 ZNF207 IKBKB HGSNAT ENSG00000254165 HOOK3 ENSG00000254673 ENSG00000254198 RNF170 POMK THAP1 FNTA
GH08H042264 1.6 Ensembl ENCODE dbSUPER 12.9 -874.1 -874065 3 PKNOX1 ARNT FEZF1 ZNF766 ZNF592 MEF2D ZNF610 SMARCA4 GLIS1 NBN ENSG00000254165 POLB IKBKB HGSNAT KAT6A HOOK3 ENSG00000254198 LOC101929897 PLAT
GH08H043124 0.9 ENCODE 19.8 -15.5 -15518 0 FOXA2 ARNT ZEB1 CHAMP1 ZNF155 TCF12 CBX5 GATA2 ZNF416 ZNF350 ENSG00000254165 IKBKB HGSNAT ENSG00000254198 AP3M2 POMK FNTA HOOK3 PIR36068 PIR33425
GH08H042269 1.3 ENCODE dbSUPER 10.2 -869.4 -869384 2 PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF143 SP3 JUNB SMARCB1 KAT8 IKBKB KAT6A POLB ENSG00000254165 HGSNAT LOC101929897 PLAT
GH08H043190 0.9 Ensembl ENCODE 11.4 +51.0 50977 2 JUN JUNB BATF RELA ZFHX2 JUND ZNF316 NFIC FOS MAFK HGSNAT ENSG00000254198 FNTA VN1R45P RNY5P6
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HGSNAT on UCSC Golden Path with GeneCards custom track

Promoters for HGSNAT Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000224171 451 2601 FOXA2 ATF1 ARNT ZFP64 ARID4B SIN3A DMAP1 GLIS2 FOS ATF7

Genomic Location for HGSNAT Gene

Chromosome:
8
Start:
43,140,449 bp from pter
End:
43,202,855 bp from pter
Size:
62,407 bases
Orientation:
Plus strand

Genomic View for HGSNAT Gene

Genes around HGSNAT on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for HGSNAT Gene

Proteins for HGSNAT Gene

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

    Protein Symbol:
    Q68CP4-HGNAT_HUMAN
    Recommended name:
    Heparan-alpha-glucosaminide N-acetyltransferase
    Protein Accession:
    Q68CP4
    Secondary Accessions:
    • B4E2V0

    Protein attributes for HGSNAT Gene

    Size:
    663 amino acids
    Molecular mass:
    73293 Da
    Quaternary structure:
    • Homooligomer. Homooligomerization is necessary for enzyme activity.
    Miscellaneous:
    • A signal sequence is predicted but has been shown not to be cleaved in the reticulum endoplasmic.

    Alternative splice isoforms for HGSNAT Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HGSNAT Gene

Post-translational modifications for HGSNAT Gene

  • Glycosylated.
  • Undergoes intralysosomal proteolytic cleavage; occurs within the end of the first and/or the beginning of the second luminal domain and is essential for the activation of the enzyme.
  • Glycosylation at posLast=9494, isoforms=2142, posLast=162162, and isoforms=2461
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for HGSNAT Gene

Domains & Families for HGSNAT Gene

Gene Families for HGSNAT Gene

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

Protein Domains for HGSNAT Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for HGSNAT Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with HGSNAT: view

No data available for UniProtKB/Swiss-Prot for HGSNAT Gene

Function for HGSNAT Gene

Molecular function for HGSNAT Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Acetyl-CoA + heparan sulfate alpha-D-glucosaminide = CoA + heparan sulfate N-acetyl-alpha-D-glucosaminide.
UniProtKB/Swiss-Prot Function:
Lysosomal acetyltransferase that acetylates the non-reducing terminal alpha-glucosamine residue of intralysosomal heparin or heparan sulfate, converting it into a substrate for luminal alpha-N-acetyl glucosaminidase.

Enzyme Numbers (IUBMB) for HGSNAT Gene

Gene Ontology (GO) - Molecular Function for HGSNAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015019 heparan-alpha-glucosaminide N-acetyltransferase activity IEA --
GO:0016740 transferase activity IEA --
GO:0016746 transferase activity, transferring acyl groups IDA,IEA 19823584
genes like me logo Genes that share ontologies with HGSNAT: view
genes like me logo Genes that share phenotypes with HGSNAT: view

Human Phenotype Ontology for HGSNAT Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for HGSNAT Gene

MGI Knock Outs for HGSNAT:

Animal Model Products

CRISPR Products

miRNA for HGSNAT Gene

miRTarBase miRNAs that target HGSNAT

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for HGSNAT
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for HGSNAT Gene

Localization for HGSNAT Gene

Subcellular locations from UniProtKB/Swiss-Prot for HGSNAT Gene

Lysosome membrane; Multi-pass membrane protein. Note=Colocalizes with the lysosomal marker LAMP2. The signal peptide is not cleaved upon translocation into the endoplasmic reticulum; the precursor is probably targeted to the lysosomes via the adapter protein complex-mediated pathway that involves tyrosine- and/or dileucine-based conserved amino acid motifs in the last C-terminus 16-amino acid domain.

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 HGSNAT gene
Compartment Confidence
plasma membrane 5
lysosome 5

Gene Ontology (GO) - Cellular Components for HGSNAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005765 lysosomal membrane TAS --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0035579 specific granule membrane TAS --
genes like me logo Genes that share ontologies with HGSNAT: view

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

Pathways & Interactions for HGSNAT Gene

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

Pathways by source for HGSNAT Gene

3 Reactome pathways for HGSNAT Gene

Interacting Proteins for HGSNAT Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000368965%0d%0a9606.ENSP00000314606%0d%0a9606.ENSP00000225927%0d%0a
Selected Interacting proteins: Q68CP4-HGNAT_HUMAN ENSP00000368965 for HGSNAT Gene via IID STRING

Gene Ontology (GO) - Biological Process for HGSNAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006027 glycosaminoglycan catabolic process TAS --
GO:0007041 lysosomal transport IDA 20650889
GO:0043312 neutrophil degranulation TAS --
GO:0051259 protein oligomerization IDA 20650889
genes like me logo Genes that share ontologies with HGSNAT: view

No data available for SIGNOR curated interactions for HGSNAT Gene

Drugs & Compounds for HGSNAT Gene

(1) Drugs for HGSNAT Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Coenzyme A Nutra 0

(2) Additional Compounds for HGSNAT Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
acetyl-coa
  • Ac-CoA
  • Ac-Coenzyme A
  • Ac-S-CoA
  • Ac-S-Coenzyme A
  • Acetyl coenzyme-A
72-89-9
heparan sulfate alpha-D-glucosaminide
genes like me logo Genes that share compounds with HGSNAT: view

Transcripts for HGSNAT Gene

mRNA/cDNA for HGSNAT Gene

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

Unigene Clusters for HGSNAT Gene

Heparan-alpha-glucosaminide N-acetyltransferase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for HGSNAT
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

No ASD Table

Relevant External Links for HGSNAT Gene

GeneLoc Exon Structure for
HGSNAT
ECgene alternative splicing isoforms for
HGSNAT

Expression for HGSNAT Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for HGSNAT Gene

This gene is overexpressed in Testis (17.0), Blymphocyte (9.6), Pancreas (7.7), and Peripheral blood mononuclear cells (6.8).

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



Protein tissue co-expression partners for HGSNAT Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HGSNAT Gene:

HGSNAT

SOURCE GeneReport for Unigene cluster for HGSNAT Gene:

Hs.600384

mRNA Expression by UniProt/SwissProt for HGSNAT Gene:

Q68CP4-HGNAT_HUMAN
Tissue specificity: Widely expressed, with highest level in leukocytes, heart, liver, skeletal muscle, lung, placenta and liver.

Evidence on tissue expression from TISSUES for HGSNAT Gene

  • Liver(4.2)
  • Nervous system(4.1)
  • Intestine(3.8)
  • Lung(3.5)
  • Kidney(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HGSNAT 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
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • skull
Thorax:
  • chest wall
  • clavicle
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • trachea
Abdomen:
  • abdominal wall
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
  • spleen
  • stomach
Pelvis:
  • pelvis
  • penis
  • testicle
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
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with HGSNAT: view

Primer Products

No data available for mRNA differential expression in normal tissues for HGSNAT Gene

Orthologs for HGSNAT Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HGSNAT Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HGSNAT 33 34
  • 99.63 (n)
dog
(Canis familiaris)
Mammalia HGSNAT 33 34
  • 85.16 (n)
mouse
(Mus musculus)
Mammalia Hgsnat 33 16 34
  • 81.11 (n)
cow
(Bos Taurus)
Mammalia HGSNAT 33 34
  • 80.78 (n)
oppossum
(Monodelphis domestica)
Mammalia HGSNAT 34
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 70 (a)
OneToMany
-- 34
  • 69 (a)
OneToMany
-- 34
  • 57 (a)
OneToMany
-- 34
  • 54 (a)
OneToMany
chicken
(Gallus gallus)
Aves HGSNAT 33 34
  • 65.35 (n)
lizard
(Anolis carolinensis)
Reptilia HGSNAT 34
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hgsnat 33
  • 60.88 (n)
zebrafish
(Danio rerio)
Actinopterygii hgsnat 33
  • 59.79 (n)
HGSNAT 34
  • 52 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG6903 33 34
  • 48.44 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005761 33
  • 46.35 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G27730 33
  • 44.7 (n)
rice
(Oryza sativa)
Liliopsida Os01g0931100 33
  • 43.64 (n)
Species where no ortholog for HGSNAT 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)
  • 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HGSNAT Gene

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

Paralogs for HGSNAT Gene

genes like me logo Genes that share paralogs with HGSNAT: view

No data available for Paralogs for HGSNAT Gene

Variants for HGSNAT Gene

Sequence variations from dbSNP and Humsavar for HGSNAT Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs112029032 Pathogenic, Mucopolysaccharidosis 3C (MPS3C) [MIM:252930], Retinitis pigmentosa 73 (RP73) [MIM:616544] 43,199,504(+) TCGTC(A/G)CCACT reference, missense
VAR_030083 Mucopolysaccharidosis 3C (MPS3C) [MIM:252930]
VAR_030084 Mucopolysaccharidosis 3C (MPS3C) [MIM:252930]
VAR_030085 Mucopolysaccharidosis 3C (MPS3C) [MIM:252930]
VAR_030086 Mucopolysaccharidosis 3C (MPS3C) [MIM:252930]

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

Variant ID Type Subtype PubMed ID
dgv12123n54 CNV gain 21841781
dgv7187n100 CNV gain 25217958
dgv7188n100 CNV gain 25217958
dgv883n27 CNV gain 19166990
esv2674702 CNV deletion 23128226
esv3576566 CNV gain 25503493
esv3617026 CNV gain 21293372
esv3891387 CNV gain 25118596
nsv1032781 CNV gain 25217958
nsv1149562 CNV insertion 26484159
nsv470208 CNV gain 18288195
nsv519841 CNV gain+loss 19592680
nsv831302 CNV loss 17160897

Variation tolerance for HGSNAT Gene

Residual Variation Intolerance Score: 66.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.89; 59.16% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HGSNAT Gene

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

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

Disorders for HGSNAT Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
mucopolysaccharidosis type iiic
  • acetyl-coa alpha-glucosaminide n-acetyltransferase deficiency
retinitis pigmentosa 73
  • rp73
retinitis pigmentosa
  • retinitis pigmentosa 1
kluver-bucy syndrome
  • klver-bucy syndrome
c syndrome
  • opitz trigonocephaly syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

HGNAT_HUMAN
  • Mucopolysaccharidosis 3C (MPS3C) [MIM:252930]: 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:16960811, ECO:0000269 PubMed:17033958, ECO:0000269 PubMed:17397050, ECO:0000269 PubMed:18024218, ECO:0000269 PubMed:19479962, ECO:0000269 PubMed:19823584, ECO:0000269 PubMed:20583299, ECO:0000269 PubMed:20825431}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Retinitis pigmentosa 73 (RP73) [MIM:616544]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269 PubMed:25859010}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for HGSNAT

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HGSNAT
genes like me logo Genes that share disorders with HGSNAT: view

No data available for Genatlas for HGSNAT Gene

Publications for HGSNAT Gene

  1. Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online. (PMID: 17397050) Fedele AO … Ballabio A (Human mutation 2007) 3 4 22 60
  2. Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). (PMID: 17033958) Hrebícek M … Pshezhetsky AV (American journal of human genetics 2006) 2 3 4 60
  3. Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C). (PMID: 16960811) Fan X … Mahuran DJ (American journal of human genetics 2006) 2 3 4 60
  4. Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT). (PMID: 25859010) Haer-Wigman L … Ben-Yosef T (Human molecular genetics 2015) 3 4 60
  5. Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles. (PMID: 20825431) Canals I … Vilageliu L (Clinical genetics 2011) 3 4 60

Products for HGSNAT Gene

Sources for HGSNAT Gene

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