The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)



Gene Review

BSCL2  -  Berardinelli-Seip congenital lipodystrophy...

Homo sapiens

Synonyms: Bernardinelli-Seip congenital lipodystrophy type 2 protein, GNG3LG, HMN5, PELD, SPG17, ...
Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.

Disease relevance of BSCL2


Psychiatry related information on BSCL2

  • However, patients with BSCL2 mutations had lower serum leptin levels, an earlier onset of diabetes, and higher prevalence of mild mental retardation compared with other subtypes [5].

High impact information on BSCL2


Chemical compound and disease context of BSCL2

  • Congenital generalized lipodystrophy or Berardinelli-Seip syndrome, autosomal recessive, is characterized by a complete early lipoatrophy and severe insulin resistance and results, in most cases, from mutations either in the seipin gene of unknown function or AGPAT2 encoding an enzyme involved in triacylglycerol synthesis [6].

Biological context of BSCL2

  • We identified a new disease locus, designated BSCL2, within the 2.5-Mb interval flanked by markers D11S4076 and D11S480 on chromosome 11q13 [7].
  • Therefore, we genotyped 45 pedigrees with CGL for AGPAT2 and BSCL2 loci and compared the phenotypes in the various subtypes [5].
  • Recently, two gene loci have been identified to harbor the mutations causing this disorder: BSCL1 mapped to human chromosome 9q34 (1, 2) and BSCL2 mapped to human chromosome 11q13 (1, 3) [8].
  • The present authors describe a 10-year-old female with Berardinelli-Seip congenital complete lipodystrophy (MIM 606158) caused by homozygosity for a frameshift mutation in BSCL2 [9].
  • On the basis of mutational and haplotype analysis, BSCL families have been classified into three types BSCL 1, BSCL2 and BSCLX [10].

Anatomical context of BSCL2


Associations of BSCL2 with chemical compounds

  • Our results suggest that the predominant form of seipin is 462 residues long and has an N(cyt)-C(cyt) orientation with a long luminal loop between the two transmembrane helices [12].

Other interactions of BSCL2

  • The higher prevalence of intellectual impairment and the increased risk of premature death in BSCL2 compared to BSCL1 emphasise the importance of molecular diagnosis of this syndrome and have clear implications for genetic counselling [1].
  • Sequence analysis of genes located in the 11q13 interval disclosed mutations in a gene homologous to the murine guanine nucleotide-binding protein (G protein), gamma3-linked gene (Gng3lg) in all BSCL2-linked families [7].


  1. Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy. Van Maldergem, L., Magré, J., Khallouf, T.E., Gedde-Dahl, T., Delépine, M., Trygstad, O., Seemanova, E., Stephenson, T., Albott, C.S., Bonnici, F., Panz, V.R., Medina, J.L., Bogalho, P., Huet, F., Savasta, S., Verloes, A., Robert, J.J., Loret, H., De Kerdanet, M., Tubiana-Rufi, N., Mégarbané, A., Maassen, J., Polak, M., Lacombe, D., Kahn, C.R., Silveira, E.L., D'Abronzo, F.H., Grigorescu, F., Lathrop, M., Capeau, J., O'Rahilly, S. J. Med. Genet. (2002) [Pubmed]
  2. Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. Windpassinger, C., Auer-Grumbach, M., Irobi, J., Patel, H., Petek, E., Hörl, G., Malli, R., Reed, J.A., Dierick, I., Verpoorten, N., Warner, T.T., Proukakis, C., Van den Bergh, P., Verellen, C., Van Maldergem, L., Merlini, L., De Jonghe, P., Timmerman, V., Crosby, A.H., Wagner, K. Nat. Genet. (2004) [Pubmed]
  3. BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy. van de Warrenburg, B.P., Scheffer, H., van Eijk, J.J., Versteeg, M.H., Kremer, H., Zwarts, M.J., Schelhaas, H.J., van Engelen, B.G. Neuromuscul. Disord. (2006) [Pubmed]
  4. Molecular pathogenesis of seipin/BSCL2-related motor neuron diseases. Ito, D., Suzuki, N. Ann. Neurol. (2007) [Pubmed]
  5. Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy. Agarwal, A.K., Simha, V., Oral, E.A., Moran, S.A., Gorden, P., O'Rahilly, S., Zaidi, Z., Gurakan, F., Arslanian, S.A., Klar, A., Ricker, A., White, N.H., Bindl, L., Herbst, K., Kennel, K., Patel, S.B., Al-Gazali, L., Garg, A. J. Clin. Endocrinol. Metab. (2003) [Pubmed]
  6. Diseases of adipose tissue: genetic and acquired lipodystrophies. Capeau, J., Magré, J., Lascols, O., Caron, M., Béréziat, V., Vigouroux, C., Bastard, J.P. Biochem. Soc. Trans. (2005) [Pubmed]
  7. Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. Magré, J., Delépine, M., Khallouf, E., Gedde-Dahl, T., Van Maldergem, L., Sobel, E., Papp, J., Meier, M., Mégarbané, A., Bachy, A., Verloes, A., d'Abronzo, F.H., 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, J.J., Tric, P., Tubiana-Rufi, N., Vigouroux, C., Weissenbach, J., Savasta, S., Maassen, J.A., Trygstad, O., Bogalho, P., Freitas, P., Medina, J.L., Bonnicci, F., Joffe, B.I., Loyson, G., Panz, V.R., Raal, F.J., O'Rahilly, S., Stephenson, T., Kahn, C.R., Lathrop, M., Capeau, J. Nat. Genet. (2001) [Pubmed]
  8. Congenital generalized lipodystrophy: profile of the disease and gender differences in two siblings. Raygada, M., Rennert, O. Clin. Genet. (2005) [Pubmed]
  9. Cardiomyopathy in congenital complete lipodystrophy. Bhayana, S., Siu, V.M., Joubert, G.I., Clarson, C.L., Cao, H., Hegele, R.A. Clin. Genet. (2002) [Pubmed]
  10. Berardinelli-Seip congenital lipodystrophy. Mandal, K., Aneja, S., Seth, A., Khan, A. Indian pediatrics. (2006) [Pubmed]
  11. Phenotypic heterogeneity in body fat distribution in patients with congenital generalized lipodystrophy caused by mutations in the AGPAT2 or seipin genes. Simha, V., Garg, A. J. Clin. Endocrinol. Metab. (2003) [Pubmed]
  12. Membrane topology of the human seipin protein. Lundin, C., Nordström, R., Wagner, K., Windpassinger, C., Andersson, H., von Heijne, G., Nilsson, I. FEBS Lett. (2006) [Pubmed]
WikiGenes - Universities