Identity
HGNC
LOCATION
8p11.21
LOCUSID
ALIAS
HGNAT,MPS3C,RP73,TMEM76
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 138050
MIM: 610453
HGNC: 26527
Ensembl: ENSG00000165102
Variants:
dbSNP: 138050
ClinVar: 138050
TCGA: ENSG00000165102
COSMIC: HGSNAT
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37592806 | 2024 | Expanding the phenotypic and genotypic spectrum of patients with HGSNAT-related retinopathy. | 0 |
| 38613342 | 2024 | Identification and characterization of novel genetic variants in the first Chinese family of mucopolysaccharidosis IIIC (Sanfilippo C syndrome). | 1 |
| 37592806 | 2024 | Expanding the phenotypic and genotypic spectrum of patients with HGSNAT-related retinopathy. | 0 |
| 38613342 | 2024 | Identification and characterization of novel genetic variants in the first Chinese family of mucopolysaccharidosis IIIC (Sanfilippo C syndrome). | 1 |
| 37014526 | 2023 | Mucopolysaccharidosis type IIIC in chinese mainland: clinical and molecular characteristics of ten patients and report of six novel variants in the HGSNAT gene. | 0 |
| 37014526 | 2023 | Mucopolysaccharidosis type IIIC in chinese mainland: clinical and molecular characteristics of ten patients and report of six novel variants in the HGSNAT gene. | 0 |
| 32347150 | 2020 | Nonsyndromic retinitis pigmentosa caused by two novel variants in the HGSNAT gene in a Chinese family. | 1 |
| 32770643 | 2020 | A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis. | 0 |
| 32347150 | 2020 | Nonsyndromic retinitis pigmentosa caused by two novel variants in the HGSNAT gene in a Chinese family. | 1 |
| 32770643 | 2020 | A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis. | 0 |
| 31228227 | 2019 | Molecular characterization of a large group of Mucopolysaccharidosis type IIIC patients reveals the evolutionary history of the disease. | 11 |
| 31228227 | 2019 | Molecular characterization of a large group of Mucopolysaccharidosis type IIIC patients reveals the evolutionary history of the disease. | 11 |
| 27827379 | 2017 | Klüver-Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C). | 0 |
| 27827379 | 2017 | Klüver-Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C). | 0 |
| 27452122 | 2016 | HGSNAT has a TATA-less promoter with multiple starts of transcription. | 0 |
Citation
Dessen P
HGSNAT (heparan-alpha-glucosaminide N-acetyltransferase)
Atlas Genet Cytogenet Oncol Haematol. 2014-08-01
Online version: http://atlasgeneticsoncology.org/gene/54360/hgsnat-(heparan-alpha-glucosaminide-n-acetyltransferase)
