Related Product Information for anti-GALNS antibody
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.
NCBI Description
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. [provided by RefSeq, Jul 2008]
Uniprot Description
GALNS: Defects in GALNS are the cause of mucopolysaccharidosis type 4A (MPS4A); also known as Morquio A syndrome. MPS4A is a form of mucopolysaccharidosis type 4, an autosomal recessive lysosomal storage disease characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate. Key clinical features include short stature, skeletal dysplasia, dental anomalies, and corneal clouding. Intelligence is normal and there is no direct central nervous system involvement, although the skeletal changes may result in neurologic complications. There is variable severity, but patients with the severe phenotype usually do not survive past the second or third decade of life. Belongs to the sulfatase family.
Protein type: EC 3.1.6.4; Glycan Metabolism - glycosaminoglycan degradation; Hydrolase
Chromosomal Location of Human Ortholog: 16q24.3
Cellular Component: lysosomal lumen
Molecular Function: N-acetylgalactosamine-4-sulfatase activity; sulfuric ester hydrolase activity
Biological Process: keratan sulfate catabolic process
Disease: Mucopolysaccharidosis, Type Iva
Product Notes
The GALNS galns (Catalog #
AAA4150401) is an Antibody produced from Rabbit and is intended for research purposes only. The product is available for immediate purchase. The Anti-GALNS Antibody reacts with Human, Mouse, Rat and may cross-react with other species as described in the data sheet. AAA Biotech's GALNS can be used in a range of immunoassay formats including, but not limited to, Western Blot (WB), Immunohistochemistry (IHC). WB: 1:500 - 1:2000 IHC: 1:50- 1:200. Researchers should empirically determine the suitability of the GALNS galns for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process.
It is sometimes possible for the material contained within the vial of
"GALNS, Polyclonal Antibody" to become dispersed throughout the inside of
the vial, particularly around the seal of said vial, during shipment and storage. We always
suggest centrifuging these vials
to consolidate all of the liquid away from the lid and to the bottom of the vial prior to
opening. Please be advised that
certain products may require dry ice for shipping and that, if this is the case, an
additional dry ice fee may also be
required.
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