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

• Cat.No.: GLA-1509H
• Product Overview: GLA MS Standard C13 and N15-labeled recombinant protein (NP_000160) with a C-terminal MYC/DDK tag, was expressed in HEK293 cells.

Specification

• Description: 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.
• Source: HEK293
• Species: Human
• Tag: Myc/DDK
• Molecular Mass: 48.8 kDa
• AA Sequence: MQLRNPELHLGCALALRFLALVSWD IPGARALDNGLARTPTMGWLHWERF MCNLDCQEEPDSCISEKLFMEMAEL MVSEGWKDAGYEYLCIDDCWMAPQR DSEGRLQADPQRFPHGIRQLANYVH SKGLKLGIYADVGNKTCAGFPGSFG YYDIDAQTFADWGVDLLKFDGCYCD SLENLADGYKHMSLALNRTGRSIVY SCEWPLYMWPFQKPNYTEIRQYCNH WRNFADIDDSWKSIKSILDWTSFNQ ERIVDVAGPGGWNDPDMLVIGNFGL SWNQQVTQMALWAIMAAPLFMSNDL RHISPQAKALLQDKDVIAINQDPLG KQGYQLRQGDNFEVWERPLSGLAWA VAMINRQEIGGPRSYTIAVASLGKG VACNPACFITQLLPVKRKLGFYEWT SRLRSHINPTGTVLLQLENTMQMSL KDLLTRTRPLEQKLISEEDLAANDI LDYKDDDDKV
• 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: GLA galactosidase alpha [ Homo sapiens (human) ]
• Official Symbol: GLA
• Synonyms: GLA; galactosidase, alpha; alpha-galactosidase A; GALA; melibiase; alpha-gal A; agalsidase alfa; alpha-D-galactosidase A; alpha-D-galactoside galactohydrolase 1
• Gene ID: 2717
• mRNA Refseq: NM_000169
• Protein Refseq: NP_000160
• MIM: 300644
• UniProt ID: P06280