Recombinant Human GALNS Protein, Myc/DDK-tagged, C13 and N15-labeled

• Cat.No.: GALNS-4692H
• Product Overview: GALNS MS Standard C13 and N15-labeled recombinant protein (NP_000503) with a C-terminal MYC/DDK tag, was expressed in HEK293 cells.

Specification

• 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.
• Source: HEK293
• Species: Human
• Tag: Myc/DDK
• Molecular Mass: 58 kDa
• AA Sequence: MAAVVAATRWWQLLLVLSAAGMGAS GAPQPPNILLLLMDDMGWGDLGVYG EPSRETPNLDRMAAEGLLFPNFYSA NPLCSPSRAALLTGRLPIRNGFYTT NAHARNAYTPQEIVGGIPDSEQLLP ELLKKAGYVSKIVGKWHLGHRPQFH PLKHGFDEWFGSPNCHFGPYDNKAR PNIPVYRDWEMVGRYYEEFPINLKT GEANLTQIYLQEALDFIKRQARHHP FFLYWAVDATHAPVYASKPFLGTSQ RGRYGDAVREIDDSIGKILELLQDL HVADNTFVFFTSDNGAALISAPEQG GSNGPFLCGKQTTFEGGMREPALAW WPGHVTAGQVSHQLGSIMDLFTTSL ALAGLTPPSDRAIDGLNLLPTLLQG RLMDRPIFYYRGDTLMAATLGQHKA HFWTWTNSWENFRQGIDFCPGQNVS GVTTHNLEDHTKLPLIFHLGRDPGE RFPLSFASAEYQEALSRITSVVQQH QEALVPAQPQLNVCNWAVMNWAPPG CEKLGKCLTPPESIPKKCLWSHTRT RPLEQKLISEEDLAANDILDYKDDD DKV
• Purity: > 80% as determined by SDS-PAGE and Coomassie blue staining
• Stability: Stable for 3 months from receipt of products under proper storage and handling conditions.
• Storage: Store at -80 centigrade. Avoid repeated freeze-thaw cycles.
• Concentration: 50 μg/mL as determined by BCA
• Storage Buffer: 100 mM glycine, 25 mM Tris-HCl, pH 7.3.

Gene Information

• Gene Name: GALNS galactosamine (N-acetyl)-6-sulfatase [ Homo sapiens (human) ]
• Official Symbol: GALNS
• Synonyms: GALNS; galactosamine (N-acetyl)-6-sulfate sulfatase; N-acetylgalactosamine-6-sulfatase; GALNAC6S; GAS; Morquio syndrome; mucopolysaccharidosis type IVA; chondroitinase; galNAc6S sulfatase; chondroitinsulfatase; galactose-6-sulfate sulfatase; N-acetylgalactosamine-6-sulfate sulfatase; MPS4A; FLJ17434; FLJ42844; FLJ98217
• Gene ID: 2588
• mRNA Refseq: NM_000512
• Protein Refseq: NP_000503
• MIM: 612222
• UniProt ID: P34059