Recombinant Human GALNS, GST-tagged

• Cat.No.: GALNS-102H
• Product Overview: Recombinant Human full-length GALNS (1 a.a. - 522 a.a.), fused with GST-tag at N-terminal, was expressed in wheat germ.

Specification

• Species: Human
• Source: Wheat Germ
• Tag: GST
• 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.
• Molecular Mass: 84.4 kDa
• AA Sequence: MAAVVAATRWWQLLLVLSAAGMGASGAPQPPNILLLLMDDMGWGDLGVYGEPSRETPNLDRMAAEGLLFPNFYSA NPLCSPSRAALLTGRLPIRNGFYTTNAHARNAYTPQEIVGGIPDSEQLLPELLKKAGYVSKIVGKWHLGHRPQFH PLKHGFDEWFGSPNCHFGPYDNKARPNIPVYRDWEMVGRYYEEFPINLKTGEANLTQIYLQEALDFIKRQARHHP FFLYWAVDATHAPVYASKPFLGTSQRGRYGDAVREIDDSIGKILELLQDLHVADNTFVFFTSDNGAALISAPEQG GSNGPFLCGKQTTFEGGMREPALAWWPGHVTAGQVSHQLGSIMDLFTTSLALAGLTPPSDRAIDGLNLLPTLLQG RLMDRPIFYYRGDTLMAATLGQHKAHFWTWTNSWENFRQGIDFCPGQNVSGVTTHNLEDHTKLPLIFHLGRDPGE RFPLSFASAEYQEALSRITSVVQQHQEALVPAQPQLNVCNWAVMNWAPPGCEKLGKCLTPPESIPKKCLWSH
• Applications: ELISA; WB-Re; AP; Array
• Storage: Store at -80°C. Aliquot to avoid repeated freezing and thawing.
• Storage Buffer: 50 mM Tris-HCI, 10 mM reduced Glutathione, pH=8.0 in the elution buffer.

Gene Information

• Gene Name: GALNS galactosamine (N-acetyl)-6-sulfate sulfatase [ Homo sapiens (human) ]
• Official Symbol: GALNS
• Synonyms: GALNS; GAS; MPS4A; GalN6S; GALNAC6S; galactosamine (N-acetyl)-6-sulfate sulfatase; N-acetylgalactosamine-6-sulfatase; chondroitinase; galNAc6S sulfatase; chondroitinsulfatase; galactose-6-sulfate sulfatase; N-acetylgalactosamine-6-sulfate sulfatase; NP_000503.1; EC 3.1.6.4
• Gene ID: 2588
• mRNA Refseq: NM_000512
• Protein Refseq: NP_000503
• MIM: 612222
• UniProt ID: P34059
• Chromosome Location: 16q24.3
• Pathway: Chondroitin sulfate degradation; Keratan sulfate degradation; Lysosome
• Function: N-acetylgalactosamine-4-sulfatase activity; N-acetylgalactosamine-6-sulfatase activity; metal ion binding