BSCL2 lipid droplet biogenesis associated, seipin
Zuletzt aktualisiert 10. März 2025
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The BSCL2 gene provides instructions for making a protein called seipin. Seipin is located in the membrane of a cell structure called the endoplasmic reticulum. The endoplasmic reticulum modifies newly produced proteins and helps transport proteins, fats, and other molecules to where they are needed.
Normal function
The BSCL2 gene provides instructions for making a protein called seipin. Seipin is located in the membrane of a cell structure called the endoplasmic reticulum. The endoplasmic reticulum modifies newly produced proteins and helps transport proteins, fats, and other molecules to where they are needed.
Three different versions (isoforms) of the seipin protein can be produced from the BSCL2 gene. One isoform is found in most tissues, and the other two are specific to the brain and the nervous system outside of the brain.
Studies suggest that seipin plays a critical role in the development and function of adipocytes, which are the major component of fatty (adipose) tissue. Within the endoplasmic reticulum of adipocytes, seipin is involved in the formation of lipid droplets, which are structures that store fat molecules.
Conditions referring to this gene or chromosome
Other names
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
BSCL2_HUMAN
GNG3LG
seipin
SPG17
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Weiterführende Lektüre und Referenzen
- BSCL2 lipid droplet biogenesis associated, seipin; MedlinePlus, National Library of Medicine.
- Auer-Grumbach M, Schlotter-Weigel B, Lochmuller H, Strobl-Wildemann G, Auer-Grumbach P, Fischer R, Offenbacher H, Zwick EB, Robl T, Hartl G, Hartung HP, Wagner K, Windpassinger C; Austrian Peripheral Neuropathy Study Group. Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation. Ann Neurol. 2005 Mar;57(3):415-24. doi: 10.1002/ana.20410.
- Bienfait HM, Baas F, Koelman JH, de Haan RJ, van Engelen BG, Gabreels-Festen AA, Ongerboer de Visser BW, Meggouh F, Weterman MA, De Jonghe P, Timmerman V, de Visser M. Phenotype of Charcot-Marie-Tooth disease Type 2. Neurology. 2007 May 15;68(20):1658-67. doi: 10.1212/01.wnl.0000263479.97552.94.
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- Cartwright BR, Binns DD, Hilton CL, Han S, Gao Q, Goodman JM. Seipin performs dissectible functions in promoting lipid droplet biogenesis and regulating droplet morphology. Mol Biol Cell. 2015 Feb 15;26(4):726-39. doi: 10.1091/mbc.E14-08-1303. Epub 2014 Dec 24.
- Cartwright BR, Goodman JM. Seipin: from human disease to molecular mechanism. J Lipid Res. 2012 Jun;53(6):1042-55. doi: 10.1194/jlr.R023754. Epub 2012 Apr 2.
- Ito D, Suzuki N. Seipinopathy: a novel endoplasmic reticulum stress-associated disease. Brain. 2009 Jan;132(Pt 1):8-15. doi: 10.1093/brain/awn216. Epub 2008 Sep 12.
- Ito D. BSCL2-Related Neurologic Disorders / Seipinopathy. 2005 Dec 6 [updated 2018 May 24]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1307/
- Magre J, Delepine M, Khallouf E, Gedde-Dahl T Jr, Van Maldergem L, Sobel E, Papp J, Meier M, Megarbane A, Bachy A, Verloes A, d'Abronzo FH, Seemanova E, Assan R, Baudic N, Bourut C, Czernichow P, Huet F, Grigorescu F, de Kerdanet M, Lacombe D, Labrune P, Lanza M, Loret H, Matsuda F, Navarro J, Nivelon-Chevalier A, Polak M, Robert JJ, Tric P, Tubiana-Rufi N, Vigouroux C, Weissenbach J, Savasta S, Maassen JA, Trygstad O, Bogalho P, Freitas P, Medina JL, Bonnicci F, Joffe BI, Loyson G, Panz VR, Raal FJ, O'Rahilly S, Stephenson T, Kahn CR, Lathrop M, Capeau J; BSCL Working Group. Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. Nat Genet. 2001 Aug;28(4):365-70. doi: 10.1038/ng585.
- Rohkamm B, Reilly MM, Lochmuller H, Schlotter-Weigel B, Barisic N, Schols L, Nicholson G, Pareyson D, Laura M, Janecke AR, Miltenberger-Miltenyi G, John E, Fischer C, Grill F, Wakeling W, Davis M, Pieber TR, Auer-Grumbach M. Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome. J Neurol Sci. 2007 Dec 15;263(1-2):100-6. doi: 10.1016/j.jns.2007.06.047. Epub 2007 Jul 30.
- Wee K, Yang W, Sugii S, Han W. Towards a mechanistic understanding of lipodystrophy and seipin functions. Biosci Rep. 2014 Oct 2;34(5):e00141. doi: 10.1042/BSR20140114.
- Windpassinger C, Auer-Grumbach M, Irobi J, Patel H, Petek E, Horl G, Malli R, Reed JA, Dierick I, Verpoorten N, Warner TT, Proukakis C, Van den Bergh P, Verellen C, Van Maldergem L, Merlini L, De Jonghe P, Timmerman V, Crosby AH, Wagner K. Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. Nat Genet. 2004 Mar;36(3):271-6. doi: 10.1038/ng1313. Epub 2004 Feb 22.
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10. März 2025 | Neueste Version
1 Mar 2025 | Ursprünglich veröffentlicht
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