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

Gene: LOC107987238

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

rs118204437 in GALNS;LOC107987238 gene and Mucopolysaccharidosis IV PMID 8829629 1996 Mucopolysaccharidosis IVA: submicroscopic deletion of 16q24.3 and a novel R386C mutation of N-acetylgalactosamine-6-sulfate sulfatase gene in a classical Morquio disease.

PMID 22976768 2013 Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations.

PMID 9401012 1997 Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A).

rs118204437 in GALNS;LOC107987238 gene and Mucopolysaccharidosis, MPS-IV-A PMID 15309681 2004 Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate.

PMID 23227063 2012 Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVA.

PMID 24726177 2014 Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations.

PMID 26147980 2015 Diagnosis of Morquio Syndrome in Dried Blood Spots Based on a New MRM-MS Assay.

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 7795586 1995 Mucopolysaccharidosis IVA: screening and identification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase gene.

PMID 22976768 2013 Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations.

PMID 25252036 2014 GALNS mutations in Indian patients with mucopolysaccharidosis IVA.

PMID 7668283 1995 Mucopolysaccharidosis IVA: identification of a common missense mutation I113F in the N-Acetylgalactosamine-6-sulfate sulfatase gene.

PMID 1522213 1992 Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases.

PMID 7581409 1995 Two new mutations, Q473X and N487S, in a Caucasian patient with mucopolysaccharidosis IVA (Morquio disease).

PMID 16287098 2005 Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A).

PMID 9375852 1997 Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene.

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 7633425 1995 Mucopolysaccharidosis type IVA: identification of six novel mutations among non-Japanese patients.

PMID 8651279 1996 Mucopolysaccharidosis IVA: four new exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiency.

PMID 8826435 1996 Heteroallelic missense mutations of the galactosamine-6-sulfate sulfatase (GALNS) gene in a mild form of Morquio disease (MPS IVA).