BSCL2 explained

Seipin is a protein that in humans is encoded by the BSCL2 gene.^{[1] [2] [3]}

Clinical significance

Mutations in BSCL2 are known to cause the following conditions:^[4]

• Congenital generalized lipodystrophy type 2;
• Spastic paraplegia 17, autosomal dominant (SPG17);
• Neuronopathy, distal hereditary motor, 5C (HMN5C);
• Encephalopathy, progressive, with or without lipodystrophy (PELD).

External links

• GeneReviews/NCBI/NIH/UW entry on BSCL2-Related Neurologic Disorders/Seipinopathy

Further reading

• Maruyama K, Sugano S . Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. . Gene . 138 . 1–2 . 171–4 . 1994 . 8125298 . 10.1016/0378-1119(94)90802-8 .
• Andersson B, Wentland MA, Ricafrente JY . A "double adaptor" method for improved shotgun library construction . Anal. Biochem. . 236 . 1 . 107–13 . 1996 . 8619474 . 10.1006/abio.1996.0138 . etal.
• Yu W, Andersson B, Worley KC . Large-scale concatenation cDNA sequencing . Genome Res. . 7 . 4 . 353–8 . 1997 . 9110174 . 10.1101/gr.7.4.353. 139146 . etal.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K . Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library . Gene . 200 . 1–2 . 149–56 . 1997 . 9373149 . 10.1016/S0378-1119(97)00411-3 . etal.
• Patel H, Hart PE, Warner TT . The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype . Am. J. Hum. Genet. . 69 . 1 . 209–15 . 2001 . 11389484 . 10.1086/321267 . 1226036 . etal.
• Strausberg RL, Feingold EA, Grouse LH . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . etal. free .
• Simha V, Garg A . Phenotypic heterogeneity in body fat distribution in patients with congenital generalized lipodystrophy caused by mutations in the AGPAT2 or seipin genes . J. Clin. Endocrinol. Metab. . 88 . 11 . 5433–7 . 2003 . 14602785 . 10.1210/jc.2003-030835 . free .
• Ota T, Suzuki Y, Nishikawa T . Complete sequencing and characterization of 21,243 full-length human cDNAs . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . etal. free .
• Ebihara K, Kusakabe T, Masuzaki H . Gene and phenotype analysis of congenital generalized lipodystrophy in Japanese: a novel homozygous nonsense mutation in seipin gene . J. Clin. Endocrinol. Metab. . 89 . 5 . 2360–4 . 2004 . 15126564 . 10.1210/jc.2003-031211 . etal. free .
• Fu M, Kazlauskaite R, Baracho Mde F . Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects . J. Clin. Endocrinol. Metab. . 89 . 6 . 2916–22 . 2004 . 15181077 . 10.1210/jc.2003-030485 . 3390418. etal.
• Gerhard DS, Wagner L, Feingold EA . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC) . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 . etal.
• Auer-Grumbach M, Schlotter-Weigel B, Lochmüller H . Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation . Ann. Neurol. . 57 . 3 . 415–24 . 2005 . 15732094 . 10.1002/ana.20410 . 10908812 . etal.
• Rual JF, Venkatesan K, Hao T . Towards a proteome-scale map of the human protein-protein interaction network . Nature . 437 . 7062 . 1173–8 . 2005 . 16189514 . 10.1038/nature04209 . 2005Natur.437.1173R . 4427026 . etal.
• van de Warrenburg BP, Scheffer H, van Eijk JJ . BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy . Neuromuscul. Disord. . 16 . 2 . 122–5 . 2006 . 16427281 . 10.1016/j.nmd.2005.11.003 . 42079115 . etal.
• Gomes KB, Pardini VC, Ferreira AC, Fernandes AP . Phenotypic heterogeneity in biochemical parameters correlates with mutations in AGPAT2 or Seipin genes among Berardinelli-Seip congenital lipodystrophy patients . J. Inherit. Metab. Dis. . 28 . 6 . 1123–31 . 2006 . 16435205 . 10.1007/s10545-005-0038-5 . 2333336 . free .
• Cho HJ, Sung DH, Ki CS . Identification of de novo BSCL2 Ser90Leu mutation in a Korean family with Silver syndrome and distal hereditary motor neuropathy . Muscle Nerve . 36 . 3 . 384–6 . 2007 . 17486577 . 10.1002/mus.20792 . 26522445 .

Notes and References

1. 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 . Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13 . Nat Genet . 28 . 4 . 365–70 . Jul 2001 . 11479539 . 10.1038/ng585 . 7718256 .
2. 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 . 36 . 3 . 271–6 . Feb 2004 . 14981520 . 10.1038/ng1313 . free .
3. Web site: Entrez Gene: BSCL2 Bernardinelli-Seip congenital lipodystrophy 2 (seipin).
4. Web site: UniProt . 2023-10-31 . www.uniprot.org.