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Antibody detects endogenous levels of total BSCL2.
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.
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Protein Aliases: Berardinelli-Seip congenital lipodystrophy 2 (seipin); Bernardinelli-Seip congenital lipodystrophy 2 homolog; Bernardinelli-Seip congenital lipodystrophy type 2 protein; Bernardinelli-Seip congenital lipodystrophy type 2 protein homolog; bscl2; bscl2 {ECO:0000250|UniProtKB:Q96G97}; G protein gamma 3 linked; Seipin
Gene Aliases: 2900097C17Rik; AI046355; BSCL2; GNG3LG; HMN5; MNCb-2630; PELD; SPG17
UniProt ID: (Human) Q96G97, (Mouse) Q9Z2E9, (Rat) Q5FVJ6
Entrez Gene ID: (Human) 26580, (Mouse) 14705, (Rat) 361722
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