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GALNS encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. Additionally we are shipping Galactosamine (N-Acetyl)-6-Sulfate Sulfatase Kits (29) and Galactosamine (N-Acetyl)-6-Sulfate Sulfatase Proteins (14) and many more products for this protein.
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Human Polyclonal GALNS Primary Antibody for EIA, FACS - ABIN952441
Yan, Wu: Descriptively quantitative relationship between mutated N-acetylgalactosamine-6-sulfatase and mucopolysaccharidosis IVA. in Biopolymers 2009
Show all 2 references for ABIN952441
Human Polyclonal GALNS Primary Antibody for FACS, IF - ABIN655593
Bhattacharyya, Kotlo, Shukla, Danziger, Tobacman: Distinct effects of N-acetylgalactosamine-4-sulfatase and galactose-6-sulfatase expression on chondroitin sulfates. in The Journal of biological chemistry 2008
Human Polyclonal GALNS Primary Antibody for ELISA, WB - ABIN238565
Houle, Tom, Mayes, Wagoner, Phillips, Silver: Combining an autologous peripheral nervous system "bridge" and matrix modification by chondroitinase allows robust, functional regeneration beyond a hemisection lesion of the adult rat spinal cord. in The Journal of neuroscience : the official journal of the Society for Neuroscience 2006
A new GALNS intronic lesion was characterized: c.245-11C>G causing m-RNA defects, although identified outside the GT/AG splice pair.
The goals were to analyze and characterize the secondary structure, regions of intrinsic disorder and physicochemical characteristics of three classes of mutations described in the enzyme N-acetylgalactosamine-6-sulfatase.
A review of mutations in the GALNS gene associated with Morquio A syndrome.
Molecular analysis of 163 patients with Morquio A identified 99 unique mutations in the GALNS gene believed to negatively impact GALNS protein function.
Here we present 53 mutations including 19 novel mutations in GALNS gene in a cohort of 55 patients
GALNS gene 5 new mutations: p.N177S, p.G290R, p.F306S, p.W520X, p.W403_T404delinsCS in the mucopolysaccharidosis IVA patients in South China
Novel mutations in the GALNS gene associated with mucopolysaccharidosis IVA in Korean patients.
missense mutation in GALNS is associated with a severe form of mucopolysaccharidosis type IVA.
Comparison of the structure of GALNS to paralogous sulfatases shows a wide variety of active-site geometries in the family but strict conservation of the catalytic machinery
Screening of mutations and polymorphisms in GALNS gene provide useful information on genotype/phenotype correlations.
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.
, N-acetylgalactosamine-6-sulfate sulfatase
, galNAc6S sulfatase
, galactose-6-sulfate sulfatase
, GalNAc6S sulfatase
, galactosamine (N-acetyl)-6-sulfate sulfatase (Morquio syndrome, mucopolysaccharidosis type IVA)