Biology:BSCL2
From HandWiki
Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
Seipin is a protein that in humans is encoded by the BSCL2 gene.[1][2][3]
Clinical significance
It can be associated with Congenital generalized lipodystrophy type 2 .
References
- ↑ "Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13". Nat Genet 28 (4): 365–70. Jul 2001. doi:10.1038/ng585. PMID 11479539.
- ↑ "Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome". Nat Genet 36 (3): 271–6. Feb 2004. doi:10.1038/ng1313. PMID 14981520.
- ↑ "Entrez Gene: BSCL2 Bernardinelli-Seip congenital lipodystrophy 2 (seipin)". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=26580.
External links
- 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
- "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.". Gene 138 (1–2): 171–4. 1994. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- "A "double adaptor" method for improved shotgun library construction". Anal. Biochem. 236 (1): 107–13. 1996. doi:10.1006/abio.1996.0138. PMID 8619474.
- "Large-scale concatenation cDNA sequencing". Genome Res. 7 (4): 353–8. 1997. doi:10.1101/gr.7.4.353. PMID 9110174.
- "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene 200 (1–2): 149–56. 1997. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- "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. doi:10.1086/321267. PMID 11389484.
- "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. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- "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. doi:10.1210/jc.2003-030835. PMID 14602785.
- "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. 2004. doi:10.1038/ng1285. PMID 14702039.
- "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. doi:10.1210/jc.2003-031211. PMID 15126564.
- "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. doi:10.1210/jc.2003-030485. PMID 15181077.
- "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. 2004. doi:10.1101/gr.2596504. PMID 15489334.
- "Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation". Ann. Neurol. 57 (3): 415–24. 2005. doi:10.1002/ana.20410. PMID 15732094.
- "Towards a proteome-scale map of the human protein-protein interaction network". Nature 437 (7062): 1173–8. 2005. doi:10.1038/nature04209. PMID 16189514. Bibcode: 2005Natur.437.1173R.
- "BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy". Neuromuscul. Disord. 16 (2): 122–5. 2006. doi:10.1016/j.nmd.2005.11.003. PMID 16427281.
- "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. doi:10.1007/s10545-005-0038-5. PMID 16435205.
- "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. doi:10.1002/mus.20792. PMID 17486577.
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