GM2A (NM_000405) Human Mass Spec Standard

Specifications

Product Data
Description	GM2A MS Standard C13 and N15-labeled recombinant protein (NP_000396)
Species	Human
Expression Host	HEK293
Expression cDNA Clone or AA Sequence	RC202452
Predicted MW	20.8 kDa
Protein Sequence	Sequence Link (showhide) >RC202452 protein sequence Red=Cloning site Green=Tags(s) MQSLMQAPLLIALGLLLAAPAQAHLKKPSQLSSFSWDNCDEGKDPAVIRSLTLEPDPIVVPGNVTLSVVG STSVPLSSPLKVDLVLEKEVAGLWIKIPCTDYIGSCTFEHFCDVLDMLIPTGEPCPEPLRTYGLPCHCPF KEGTYSLPKSEFVVPDLELPSWLTTGNYRIESVLSSSGKRLGCIKIAASLKGI 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_000396
RefSeq Size	3690
RefSeq ORF	579
Synonyms	GM2-AP; SAP-3
Locus ID	2760
Cytogenetics	5q33.1
Summary	This gene encodes a small glycolipid transport protein which acts as a substrate specific co-factor for the lysosomal enzyme beta-hexosaminidase A. Beta-hexosaminidase A, together with GM2 ganglioside activator, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene result in GM2-gangliosidosis type AB or the AB variant of Tay-Sachs disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]
Protein Families	Druggable Genome
Protein Pathways	Lysosome

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