Galactosidase alpha (GLA) (NM_000169) Human Mass Spec Standard

Specifications

Product Data
Description	GLA MS Standard C13 and N15-labeled recombinant protein (NP_000160)
Species	Human
Expression Host	HEK293
Expression cDNA Clone or AA Sequence	RC201304
Predicted MW	48.8 kDa
Protein Sequence	Sequence Link (showhide) >Peptide sequence encoded by RC201304 Blue=ORF Red=Cloning site Green=Tag(s) MQLRNPELHLGCALALRFLALVSWDIPGARALDNGLARTPTMGWLHWERFMCNLDCQEEPDSCISEKLF MEMAELMVSEGWKDAGYEYLCIDDCWMAPQRDSEGRLQADPQRFPHGIRQLANYVHSKGLKLGIYADVG NKTCAGFPGSFGYYDIDAQTFADWGVDLLKFDGCYCDSLENLADGYKHMSLALNRTGRSIVYSCEWPLY MWPFQKPNYTEIRQYCNHWRNFADIDDSWKSIKSILDWTSFNQERIVDVAGPGGWNDPDMLVIGNFGLS WNQQVTQMALWAIMAAPLFMSNDLRHISPQAKALLQDKDVIAINQDPLGKQGYQLRQGDNFEVWERPLS GLAWAVAMINRQEIGGPRSYTIAVASLGKGVACNPACFITQLLPVKRKLGFYEWTSRLRSHINPTGTVL LQLENTMQMSLKDLL TRTRPLEQKLISEEDLAANDILDYKDDDDKV Recombinant protein using RC201304 also available, TP301304
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_000160
RefSeq Size	1418
RefSeq ORF	1287
Synonyms	GALA
Locus ID	2717
Cytogenetics	Xq22.1
Summary	This gene encodes a homodimeric glycoprotein that hydrolyses the terminal alpha-galactosyl moieties from glycolipids and glycoproteins. This enzyme predominantly hydrolyzes ceramide trihexoside, and it can catalyze the hydrolysis of melibiose into galactose and glucose. A variety of mutations in this gene affect the synthesis, processing, and stability of this enzyme, which causes Fabry disease, a rare lysosomal storage disorder that results from a failure to catabolize alpha-D-galactosyl glycolipid moieties. [provided by RefSeq, Jul 2008]
Protein Families	Druggable Genome
Protein Pathways	Galactose metabolism, Glycerolipid metabolism, Glycosphingolipid biosynthesis - globo series, Lysosome, Sphingolipid metabolism

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