Gene: LOC107987238
Alternate names for this Gene:
Gene Summary:
Gene is located in Chromosome:
Location in Chromosome :
Description of this Gene:
Type of Gene:
Gene: GALNS
Alternate names for this Gene: GALNAC6S|GAS|GalN6S|MPS4A
Gene Summary: This gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. Sequence alterations including point, missense and nonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme. Deficiencies of this enzyme lead to Morquio A syndrome, a lysosomal storage disorder.
Gene is located in Chromosome: 16
Location in Chromosome : 16q24.3
Description of this Gene: galactosamine (N-acetyl)-6-sulfatase
Type of Gene: protein-coding
rs200763834 in
LOC107987238;GALNS gene and
Mucopolysaccharidosis, MPS-IV-A
PMID 8826435 1996 Heteroallelic missense mutations of the galactosamine-6-sulfate sulfatase (GALNS) gene in a mild form of Morquio disease (MPS IVA).
PMID 9521421 1998 Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotype.
PMID 9375852 1997 Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene.
PMID 7795586 1995 Mucopolysaccharidosis IVA: screening and identification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase gene.
PMID 8651279 1996 Mucopolysaccharidosis IVA: four new exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiency.
PMID 9298823 1997 Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome.
PMID 16287098 2005 Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A).
PMID 7668283 1995 Mucopolysaccharidosis IVA: identification of a common missense mutation I113F in the N-Acetylgalactosamine-6-sulfate sulfatase gene.
PMID 24726177 2014 Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations.
PMID 7581409 1995 Two new mutations, Q473X and N487S, in a Caucasian patient with mucopolysaccharidosis IVA (Morquio disease).
PMID 1522213 1992 Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases.
PMID 7633425 1995 Mucopolysaccharidosis type IVA: identification of six novel mutations among non-Japanese patients.