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BSCL2
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| BSCL2 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | BSCL2, GNG3LG, HMN5, PELD, SPG17, Berardinelli-Seip congenital lipodystrophy 2 (seipin), seipin lipid droplet biogenesis associated, BSCL2 lipid droplet biogenesis associated, seipin, HMN5C | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 606158; MGI: 1298392; HomoloGene: 32032; GeneCards: BSCL2; OMA:BSCL2 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Seipin is a protein that in humans is encoded by the BSCL2 gene.[5][6][7]
Clinical significance
[edit]Mutations in BSCL2 are known to cause the following conditions:[8]
- Congenital generalized lipodystrophy type 2;
- Spastic paraplegia 17, autosomal dominant (SPG17);
- Neuronopathy, distal hereditary motor, 5C (HMN5C);
- Encephalopathy, progressive, with or without lipodystrophy (PELD).
References
[edit]- ^ a b c GRCh38: Ensembl release 89: ENSG00000168000 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000071657 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ 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 (Jul 2001). "Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13". Nat Genet. 28 (4): 365–70. doi:10.1038/ng585. PMID 11479539. S2CID 7718256.
- ^ 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 (Feb 2004). "Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome". Nat Genet. 36 (3): 271–6. doi:10.1038/ng1313. PMID 14981520.
- ^ "Entrez Gene: BSCL2 Bernardinelli-Seip congenital lipodystrophy 2 (seipin)".
- ^ "UniProt". www.uniprot.org. Retrieved 2023-10-31.
External links
[edit]- GeneReviews/NCBI/NIH/UW entry on BSCL2-Related Neurologic Disorders/Seipinopathy
- Human BSCL2 genome location and BSCL2 gene details page in the UCSC Genome Browser.
Further reading
[edit]- Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- Andersson B, Wentland MA, Ricafrente JY, et al. (1996). "A "double adaptor" method for improved shotgun library construction". Anal. Biochem. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474.
- Yu W, Andersson B, Worley KC, et al. (1997). "Large-scale concatenation cDNA sequencing". Genome Res. 7 (4): 353–8. doi:10.1101/gr.7.4.353. PMC 139146. PMID 9110174.
- Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- Patel H, Hart PE, Warner TT, et al. (2001). "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. doi:10.1086/321267. PMC 1226036. PMID 11389484.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Simha V, Garg A (2003). "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. doi:10.1210/jc.2003-030835. PMID 14602785.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Ebihara K, Kusakabe T, Masuzaki H, et al. (2004). "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. doi:10.1210/jc.2003-031211. PMID 15126564.
- Fu M, Kazlauskaite R, Baracho Mde F, et al. (2004). "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. doi:10.1210/jc.2003-030485. PMC 3390418. PMID 15181077.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Auer-Grumbach M, Schlotter-Weigel B, Lochmüller H, et al. (2005). "Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation". Ann. Neurol. 57 (3): 415–24. doi:10.1002/ana.20410. PMID 15732094. S2CID 10908812.
- Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
- van de Warrenburg BP, Scheffer H, van Eijk JJ, et al. (2006). "BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy". Neuromuscul. Disord. 16 (2): 122–5. doi:10.1016/j.nmd.2005.11.003. PMID 16427281. S2CID 42079115.
- Gomes KB, Pardini VC, Ferreira AC, Fernandes AP (2006). "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. doi:10.1007/s10545-005-0038-5. PMID 16435205. S2CID 2333336.
- Cho HJ, Sung DH, Ki CS (2007). "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. doi:10.1002/mus.20792. PMID 17486577. S2CID 26522445.
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