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Invitrogen
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Immunogen sequence: QEESTPQSDV TEDGESPEDP SGTEGQLSEE EKPDQQPLSG EEELEPEAS
For short term use, store at 2-8°C up to 1 week. For long term storage, store at -20°C in small aliquots to prevent freeze-thaw cycles.
Predicted homology: Cow: 86%; Dog: 86%; Horse: 92%; Human: 100%; Mouse: 100%; Rabbit: 100%; Rat: 100%
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Berardinelli-Seip congenital lipodystrophy 2 (seipin); Bernardinelli-Seip congenital lipodystrophy type 2 protein; Seipin
基因别名: BSCL2; GNG3LG; HMN5; PELD; SPG17
UniProt ID: (Human) Q96G97
Entrez Gene ID: (Human) 26580