BSCL2 lipid droplet biogenesis associated, seipin
Última atualização 10 Mar 2025
Atende aos diretrizes editoriais
- BaixarBaixar
- Compartilhar
- Language
- Discussão
- Versão em Áudio
- Adicionar às fontes preferidas no Google
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
Related patient information and medicines
Patient information leaflet
Avaliação do risco de saúde cardiovascular
A cardiovascular health risk assessment provides an accurate estimate of your risk of developing cardiovascular disease (eg, angina, heart attack, stroke or peripheral arterial disease) over the following 10 years, and provides an opportunity for you to make any changes that will reduce this risk. If you already have a cardiovascular disease or.
Patient information leaflet
Posso tomar Fenofibrato e Gabapentina juntos?
Existem no known significant interactions between fenofibrate and gabapentin. These two medicines work in different ways and are processed by different organs in the body. Why this happens Fenofibrate is primarily broken down by the liver and affects blood fats (lipids). Gabapentin is not metabolised by the liver; it is filtered out of the body.
Patient information leaflet
Distúrbios de armazenamento de glicogênio
Distúrbios de armazenamento de glicogênio are a group of inherited diseases. They result from a problem with one of the proteins (known as enzymes) involved in the conversion of glucose to glycogen, or the breakdown of glycogen back into glucose. They mostly tend to affect your liver and muscles. Symptoms include weakness, tiredness and low blood sugar levels..
Patient information leaflet
Estatinas e outros medicamentos para redução de lipídios
Estatinas work by blocking the action of a certain chemical (enzyme) which is needed to make cholesterol, and by removing some forms of cholesterol from the blood. What are statins. Estatinas are a group of para resfriado that are commonly used to reduce the level of cholesterol in the blood. Types of statins Statins available on prescription include:.
Patient information leaflet
Doença cardíaca
The heart is a tensão muscular pump located in the chest, which pumps blood around the body. It keeps pumping from a few weeks after conception until we die. There are a number of different conditions that can affect how the heart works. What is heart disease. There are many different conditions which can affect the heart, including those which affect the.
Patient information leaflet
Medicamentos antipsicóticos
Antipsychotics são para resfriado that are mainly used para treat schizophrenia or mania caused by . Side-effects are common with antipsychotics. Regular tests may be needed to monitor for side-effects on some of these medicines. What are antipsychotics. Antipsychotics are a group of medicines that are mainly used to treat mental health.
Leitura adicional e referências
- 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.
- Bird TD. Charcot-Marie-Tooth Hereditary Neuropathy Overview. 1998 Sep 28 [updated 2025 Nov 20]. 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/NBK1358/
- 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.
Participe da conversa
Compartilhe seus pensamentos ou experiências com outros em nosso comunidades de pacientes.
Pergunte, compartilhe, conecte-se.
Navegue por discussões, faça perguntas e compartilhe experiências em centenas de tópicos de saúde.
Inscreva-se no boletim informativo do Patient
Sua dose semanal de conselhos de saúde claros e confiáveis - escritos para ajudá-lo a se sentir informado, confiante e no controle.
Ao se inscrever, você aceita nossos Política de Privacidade. Você pode cancelar a inscrição a qualquer momento. Nunca vendemos seus dados.