| Name | GALNS Full-Length MS Protein Standard |
|---|---|
| Cat# | CPFL308708 |
| Protein Name | galactosamine (N-acetyl)-6-sulfate sulfatase |
| Symbol | GALNS |
| Synonyms | GalN6S; GALNAC6S; GAS; MPS4A |
| Accession | NM_000512 |
| Cytogenetic | 16q24.3 |
| Amino Acid Labeled | [U- 13C6, 15N4]-L-Arg and [U- 13C6, 15N2]-L-Lys |
| Description | GALNS Full-Length MS Protein Standard (NP_000503), Labeled with [U- 13C6, 15N4]-L-Arginine and [U- 13C6, 15N2]-L-Lysine, was produced in human 293 cells (HEK293) with fully chemically defined cell culture medium to obtain incorporation efficiency at Creative-Proteomics. 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. |
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