BSCL2

From Wikipedia, the free encyclopedia

Bernardinelli-Seip congenital lipodystrophy 2 (seipin)

Identifiers

BSCL2; GNG3LG; MGC4694; SPG17

External IDs

OMIM: 606158 MGI: 1298392 HomoloGene: 32032

Gene ontology
Molecular Function:	• molecular_function
Cellular Component:	• endoplasmic reticulum • membrane • integral to membrane • integral to endoplasmic reticulum membrane
Biological Process:	• biological_process

Orthologs

Human

Mouse

n/a

Refseq

NM_032667 (mRNA)
NP_116056 (protein)

NM_008144 (mRNA)
NP_032170 (protein)

Location

n/a

Chr 19: 8.9 - 8.92 Mb

Pubmed search

[1]

[2]

Bernardinelli-Seip congenital lipodystrophy 2 (seipin), also known as BSCL2, is a human gene.^[1]

[edit] References

^ Entrez Gene: BSCL2 Bernardinelli-Seip congenital lipodystrophy 2 (seipin).

[edit] Further reading

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. 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. 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. 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. PMID 11389484.
Magré J, Delépine M, Khallouf E, et al. (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.
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. doi:10.1073/pnas.242603899. 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. 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.
Windpassinger C, Auer-Grumbach M, Irobi J, et al. (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.
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. 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. 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. 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.
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. doi:10.1038/nature04209. PMID 16189514.
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.
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.
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.