Anti-BSCL2 (aa 263-354) polyclonal antibody

Species Reactivity

Human

Immunogen

BSCL2 (NP_116056, 263 a.a. ~ 354 a.a) partial recombinant protein with GST tag. The sequence is WPRHRFSLQVNIRKRDNSRKEVQRRISAHQPGPEGQEESTPQSDVTEDGESPEDPSGTEG QLSEEEKPDQQPLSGEEELEPEASDGSGSWED

Conjugate

Alternative Names

BSCL2; Berardinelli-Seip congenital lipodystrophy 2 (seipin); HMN5; SPG17; GNG3LG; seipin; Bernardinelli-Seip congenital lipodystrophy type 2 protein;

Entrez Gene ID

UniProt ID

Antigen 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).[provided by RefSeq, Mar 2011]

Pathway

Adipogenesis;