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Zhou, V. BSCL2 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/4999 (accessed on 22 September 2026).
Zhou V. BSCL2 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/4999. Accessed September 22, 2026.
Zhou, Vicky. "BSCL2 Gene" Encyclopedia, https://encyclopedia.pub/entry/4999 (accessed September 22, 2026).
Zhou, V. (2020, December 24). BSCL2 Gene. In Encyclopedia. https://encyclopedia.pub/entry/4999
Zhou, Vicky. "BSCL2 Gene." Encyclopedia. Web. 24 December, 2020.
BSCL2 Gene
Edit

BSCL2, seipin lipid droplet biogenesis associated

genes

References

  1. Auer-Grumbach M, Schlotter-Weigel B, Lochmüller 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. Phenotypesof the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation. Ann Neurol.2005 Mar;57(3):415-24.
  2. Bienfait HM, Baas F, Koelman JH, de Haan RJ, van Engelen BG, Gabreëls-FestenAA, 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 May15;68(20):1658-67.
  3. Bird TD. Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview. 1998 Sep 28[updated 2020 May 14]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): Universityof Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1358/
  4. Cartwright BR, Binns DD, Hilton CL, Han S, Gao Q, Goodman JM. Seipin performs dissectible functions in promoting lipid droplet biogenesis and regulatingdroplet morphology. Mol Biol Cell. 2015 Feb 15;26(4):726-39. doi:10.1091/mbc.E14-08-1303.
  5. 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.Review.
  6. Ito D, Suzuki N. Seipinopathy: a novel endoplasmic reticulum stress-associateddisease. Brain. 2009 Jan;132(Pt 1):8-15. doi: 10.1093/brain/awn216.
  7. Ito D. BSCL2-Related Neurologic Disorders/Seipinopathy. 2005 Dec 6 [updated2018 May 24]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University ofWashington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1307/
  8. Magré J, Delépine M, Khallouf E, Gedde-Dahl T Jr, Van Maldergem L, Sobel E,Papp J, Meier M, Mégarbané 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-ChevalierA, 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, LathropM, Capeau J; BSCL Working Group. Identification of the gene altered inBerardinelli-Seip congenital lipodystrophy on chromosome 11q13. Nat Genet. 2001Aug;28(4):365-70.
  9. Rohkamm B, Reilly MM, Lochmüller H, Schlotter-Weigel B, Barisic N, Schöls L,Nicholson G, Pareyson D, Laurà M, Janecke AR, Miltenberger-Miltenyi G, John E,Fischer C, Grill F, Wakeling W, Davis M, Pieber TR, Auer-Grumbach M. Furtherevidence for genetic heterogeneity of distal HMN type V, CMT2 with predominanthand involvement and Silver syndrome. J Neurol Sci. 2007 Dec 15;263(1-2):100-6.
  10. Wee K, Yang W, Sugii S, Han W. Towards a mechanistic understanding oflipodystrophy and seipin functions. Biosci Rep. 2014 Oct 2;34(5). pii: e00141.doi: 10.1042/BSR20140114. Review.
  11. Windpassinger C, Auer-Grumbach M, Irobi J, Patel H, Petek E, Hörl 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 distalhereditary motor neuropathy and Silver syndrome. Nat Genet. 2004 Mar;36(3):271-6.
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