BSCL2 Antibody (N-term)
Affinity Purified Rabbit Polyclonal Antibody (Pab)
- SPECIFICATION
- CITATIONS
- PROTOCOLS
- BACKGROUND
Application
| IHC-P, WB, E |
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Primary Accession | Q96G97 |
Other Accession | Q5E9P6, NP_001116427.1, NP_001124174.1, NP_116056.3 |
Reactivity | Human, Mouse |
Predicted | Bovine |
Host | Rabbit |
Clonality | Polyclonal |
Isotype | Rabbit IgG |
Calculated MW | 44392 Da |
Antigen Region | 78-107 aa |
Gene ID | 26580 |
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Other Names | Seipin, Bernardinelli-Seip congenital lipodystrophy type 2 protein, BSCL2 |
Target/Specificity | This BSCL2 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 78-107 amino acids from the N-terminal region of human BSCL2. |
Dilution | WB~~1:2000 IHC-P~~1:50~100 |
Format | Purified polyclonal antibody supplied in PBS with 0.09% (W/V) sodium azide. This antibody is purified through a protein A column, followed by peptide affinity purification. |
Storage | Maintain refrigerated at 2-8°C for up to 2 weeks. For long term storage store at -20°C in small aliquots to prevent freeze-thaw cycles. |
Precautions | BSCL2 Antibody (N-term) is for research use only and 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 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.
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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