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

SKU PH301304

GLA MS Standard C13 and N15-labeled recombinant protein (NP_000160)

Product Data

• Tag: C-Myc/DDK
• Species: Human
• Expression Host: HEK293
• Expression cDNA Clone or AA Sequence: [RC201304]
• Predicted MW: 48.8 kDa
• Protein Sequence:
  Protein Sequence

  >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
• 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
• Storage: Store at -80°C. Avoid repeated freeze-thaw cycles.
• Stability: Stable for 3 months from receipt of products under proper storage and handling conditions.
• Shipping: Dry Ice

Reference Data

• RefSeq: NP_000160
• RefSeq Size: 1418
• RefSeq ORF: 1287
• Synonyms: GALA
• Locus ID: 2717
• UniProt ID: P06280
• 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