Recombinant Human BSCL2 Protein, Myc/DDK-tagged, C13 and N15-labeled

• Cat.No.: BSCL2-5326H
• Product Overview: BSCL2 MS Standard C13 and N15-labeled recombinant protein (NP_116056) with a C-terminal MYC/DDK tag, was expressed in HEK293 cells.

Specification

• Species: Human
• Source: HEK293
• Tag: DDK&Myc
• Description: This gene encodes the multi-pass transmembrane protein protein seipin. This protein localizes to the endoplasmic reticulum and may be important for lipid droplet morphology. Mutations in this gene have been associated with congenital generalized lipodystrophy type 2 or Berardinelli-Seip syndrome, a rare autosomal recessive disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Naturally occurring read-through transcription occurs between this locus and the neighboring locus HNRNPUL2 (heterogeneous nuclear ribonucleoprotein U-like 2).
• Molecular Mass: 44.2 kDa
• AA Sequence: MVNDPPVPALLWAQEVGQVLAGRARRLLLQFGVLFCTILLLLWVSVFLYGSFYYSYMPTVSHLSPVHFYYRTDCDSSTTSLCSFPVANVSLTKGGRDRVLMYGQPYRVTLELELPESPVNQDLGMFLVTISCYTRGGRIISTSSRSVMLHYRSDLLQMLDTLVFSSLLLFGFAEQKQLLEVELYADYRENSYVPTTGAIIEIHSKRIQLYGAYLRIHAHFTGLRYLLYNFPMTCAFIGVASNFTFLSVIVLFSYMQWVWGGIWPRHRFSLQVNIRKRDNSRKEVQRRISAHQPGAGPEGQEESTPQSDVTEDGESPEDPSGTEGQLSEEEKPDQQPLSGEEELEPEASDGSGSWEDAALLTEANLPAPAPASASAPVLETLGSSEPAGGALRQRPTCSSSTRTRPLEQKLISEEDLAANDILDYKDDDDKV
• 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: BSCL2 BSCL2 lipid droplet biogenesis associated, seipin [ Homo sapiens (human) ]
• Official Symbol: BSCL2
• Synonyms: BSCL2; Berardinelli-Seip congenital lipodystrophy 2 (seipin); GNG3LG, spastic paraplegia 17 (Silver syndrome), SPG17; seipin; Bernardinelli-Seip congenital lipodystrophy type 2 protein; HMN5; SPG17; GNG3LG; MGC4694; FLJ16651
• Gene ID: 26580
• mRNA Refseq: NM_032667
• Protein Refseq: NP_116056
• MIM: 606158
• UniProt ID: Q96G97