Identity
HGNC
LOCATION
16q24.3
LOCUSID
ALIAS
GALNAC6S,GAS,GalN6S,MPS4A
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: 2588
MIM: 612222
HGNC: 4122
Ensembl: ENSG00000141012
Variants:
dbSNP: 2588
ClinVar: 2588
TCGA: ENSG00000141012
COSMIC: GALNS
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA166159062 | elosulfase alfa | Chemical | LabelAnnotation | associated |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35212421 | 2022 | Investigation of GALNS variants and genotype-phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA. | 3 |
| 35729508 | 2022 | The GALNS p.P77R variant is a probable Gujarati-Indian founder mutation causing Mucopolysaccharidosis IVA syndrome. | 2 |
| 36292628 | 2022 | Exome Sequencing Identifies a Biallelic GALNS Variant (p.Asp233Asn) Causing Mucopolysaccharidosis Type IVA in a Pakistani Consanguineous Family. | 0 |
| 35212421 | 2022 | Investigation of GALNS variants and genotype-phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA. | 3 |
| 35729508 | 2022 | The GALNS p.P77R variant is a probable Gujarati-Indian founder mutation causing Mucopolysaccharidosis IVA syndrome. | 2 |
| 36292628 | 2022 | Exome Sequencing Identifies a Biallelic GALNS Variant (p.Asp233Asn) Causing Mucopolysaccharidosis Type IVA in a Pakistani Consanguineous Family. | 0 |
| 33775523 | 2021 | Long-term outcomes of patients with mucopolysaccharidosis VI treated with galsulfase enzyme replacement therapy since infancy. | 5 |
| 34076347 | 2021 | Demographic, clinical, and ancestry characterization of a large cluster of mucopolysaccharidosis IV A in the Brazilian Northeast region. | 2 |
| 34387910 | 2021 | Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants. | 12 |
| 34472180 | 2021 | The youngest pair of siblings with Mucopolysaccharidosis type IVA to receive enzyme replacement therapy to date: A case report. | 5 |
| 33775523 | 2021 | Long-term outcomes of patients with mucopolysaccharidosis VI treated with galsulfase enzyme replacement therapy since infancy. | 5 |
| 34076347 | 2021 | Demographic, clinical, and ancestry characterization of a large cluster of mucopolysaccharidosis IV A in the Brazilian Northeast region. | 2 |
| 34387910 | 2021 | Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants. | 12 |
| 34472180 | 2021 | The youngest pair of siblings with Mucopolysaccharidosis type IVA to receive enzyme replacement therapy to date: A case report. | 5 |
| 32216080 | 2020 | Natural history of the oldest known females with mucopolysaccharidosis type IVA (Morquio A syndrome). | 2 |
Citation
Dessen P
GALNS (galactosamine (N-acetyl)-6-sulfatase)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/63681/galns-(galactosamine-(n-acetyl)-6-sulfatase)
