|Other Accession||NP_001116427.1, NP_001124174.1, NP_116056.3|
|Other Names||Seipin, Bernardinelli-Seip congenital lipodystrophy type 2 protein, BSCL2|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Function||Is a regulator of lipid catabolism essential for adipocyte differentiation. May also be involved in the central regulation of energy homeostasis (By similarity). Necessary for correct lipid storage and lipid droplets maintenance; may play a tissue-autonomous role in controlling lipid storage in adipocytes and in preventing ectopic lipid droplet formation in non-adipose tissues.|
|Cellular Location||Endoplasmic reticulum membrane; Multi-pass membrane protein|
|Tissue Location||Expressed in motor neurons in the spinal cord and cortical neurons in the frontal lobe (at protein level) Highly expressed in brain, testis and adipose tissue|
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This gene encodes protein seipin, which is located in theendoplasmic reticulum and may be important for lipid dropletmorphology. Mutations in this gene have been associated withcongenital generalized lipodystrophy type 2 or Berardinelli-Seipsyndrome, a rare autosomal recessive disease characterized by anear absence of adipose tissue and severe insulin resistance.Alternatively spliced transcript variants encoding differentisoforms have been found for this gene.
Rakocevic-Stojanovic, V., et al. J. Neurol. Sci. 296 (1-2), 107-109 (2010) :Luigetti, M., et al. Muscle Nerve 42(3):448-451(2010)Nishiyama, A., et al. Pediatr Int 51(6):775-779(2009)Wu, Y.R., et al. J. Neurol. Neurosurg. Psychiatr. 80(10):1180-1181(2009)Chen, W., et al. Endocrinology 150(10):4552-4561(2009)
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