BSCL2 Antibody (N-term) Blocking peptide
Synthetic peptide
- SPECIFICATION
- CITATIONS
- PROTOCOLS
- BACKGROUND
Primary Accession | Q96G97 |
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Other Accession | NP_001116427.1, NP_001124174.1, NP_116056.3 |
Clone Names | 80722027 |
Gene ID | 26580 |
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Other Names | Seipin, Bernardinelli-Seip congenital lipodystrophy type 2 protein, BSCL2 |
Format | Peptides are lyophilized in a solid powder format. Peptides can be reconstituted in solution using the appropriate buffer as needed. |
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. |
Name | BSCL2 |
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Function | Plays a crucial role in the formation of lipid droplets (LDs) which are storage organelles at the center of lipid and energy homeostasis (PubMed:19278620, PubMed:21533227, PubMed:31708432, PubMed:30293840). In association with LDAF1, defines the sites of LD formation in the ER (PubMed:31708432). Also required for growth and maturation of small nascent LDs into larger mature LDs (PubMed:27564575). Mediates the formation and/or stabilization of endoplasmic reticulum-lipid droplets (ER-LD) contacts, facilitating protein and lipid delivery from the ER into growing LDs (PubMed:31178403, PubMed:27879284). Regulates the maturation of ZFYVE1- positive nascent LDs and the function of the RAB18-ZFYVE1 complex in mediating the formation of ER-LD contacts (PubMed:30970241). Binds anionic phospholipids including phosphatidic acid (PubMed:30293840). Plays an important role in the differentiation and development of adipocytes (By similarity). |
Cellular Location | Endoplasmic reticulum membrane; Multi-pass membrane protein. Lipid droplet Note=Localizes at endoplasmic reticulum-lipid droplets (ER-LD) contact sites. |
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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Background
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.
References
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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