GALNS (NM_000512) Human Mass Spec Standard

Specifications

Product Data
Description	GALNS MS Standard C13 and N15-labeled recombinant protein (NP_000503)
Species	Human
Expression Host	HEK293
Expression cDNA Clone or AA Sequence	RC208708
Predicted MW	58 kDa
Protein Sequence	Sequence Link (showhide) >RC208708 protein sequence Red=Cloning site Green=Tags(s) MAAVVAATRWWQLLLVLSAAGMGASGAPQPPNILLLLMDDMGWGDLGVYGEPSRETPNLDRMAAEGLLFP NFYSANPLCSPSRAALLTGRLPIRNGFYTTNAHARNAYTPQEIVGGIPDSEQLLPELLKKAGYVSKIVGK WHLGHRPQFHPLKHGFDEWFGSPNCHFGPYDNKARPNIPVYRDWEMVGRYYEEFPINLKTGEANLTQIYL QEALDFIKRQARHHPFFLYWAVDATHAPVYASKPFLGTSQRGRYGDAVREIDDSIGKILELLQDLHVADN TFVFFTSDNGAALISAPEQGGSNGPFLCGKQTTFEGGMREPALAWWPGHVTAGQVSHQLGSIMDLFTTSL ALAGLTPPSDRAIDGLNLLPTLLQGRLMDRPIFYYRGDTLMAATLGQHKAHFWTWTNSWENFRQGIDFCP GQNVSGVTTHNLEDHTKLPLIFHLGRDPGERFPLSFASAEYQEALSRITSVVQQHQEALVPAQPQLNVCN WAVMNWAPPGCEKLGKCLTPPESIPKKCLWSH TRTRPLEQKLISEEDLAANDILDYKDDDDKV
Tag	C-Myc/DDK
Purity	> 80% as determined by SDS-PAGE and Coomassie blue staining
Concentration	>0.05 µg/µL as determined by microplate BCA method
Labeling Method	Labeled with [U- 13C6, 15N4]-L-Arginine and [U- 13C6, 15N2]-L-Lysine
Buffer	25 mM Tris-HCl, 100 mM glycine, pH 7.3
Reference Data
RefSeq	NP_000503
RefSeq Size	2380
RefSeq ORF	1566
Synonyms	GalN6S; GALNAC6S; GAS; MPS4A
Locus ID	2588
Cytogenetics	16q24.3
Summary	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]
Protein Families	Druggable Genome
Protein Pathways	Glycosaminoglycan degradation, Lysosome, Metabolic pathways

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