Recombinant Human BSCL2 Protein, GST-tagged

• Cat.No.: BSCL2-357H
• Product Overview: Human BSCL2 partial ORF ( NP_116056, 259 a.a. - 357 a.a.) recombinant protein with GST-tag at N-terminal.

Specification

• Species: Human
• Source: Wheat Germ
• Tag: GST
• Description: This gene encodes protein seipin, which is located in 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.
• Form: 50 mM Tris-HCI, 10 mM reduced Glutathione, pH=8.0 in the elution buffer.
• Molecular Mass: 36.63 kDa
• AA Sequence: WGGIWPRHRFSLQVNIRKRDNSRKEVQRRISAHQPGPEGQEESTPQSDVTEDGESPEDPSGTEGQLSEEEKPDQQPLSGEEELEPEASDGSGSWEDAAL
• Quality Control Test: 12.5% SDS-PAGE Stained with Coomassie Blue.
• Notes: Best use within three months from the date of receipt of this protein.
• Storage: Store at -80 centigrade. Aliquot to avoid repeated freezing and thawing.
• Storage Buffer: 50 mM Tris-HCI, 10 mM reduced Glutathione, pH=8.0 in the elution buffer.

Gene Information

• Gene Name: BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin) [ Homo sapiens ]
• 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_001122955
• Protein Refseq: NP_001116427
• MIM: 606158
• UniProt ID: Q96G97