6ds5

Structural highlights

Disease

BSCL2_HUMAN Autosomal dominant spastic paraplegia type 17;Severe neurodegenerative syndrome with lipodystrophy;Distal hereditary motor neuropathy type 5;Berardinelli-Seip congenital lipodystrophy. The disease is caused by mutations affecting the gene represented in this entry. The disease is caused by mutations affecting the gene represented in this entry. The disease is caused by mutations affecting the gene represented in this entry. The disease is caused by mutations affecting the gene represented in this entry.

Function

BSCL2_HUMAN Is a regulator of lipid catabolism essential for adipocyte differentiation. May also be involved in the central regulation of energy homeostasis (By similarity). Necessary for correct lipid storage and lipid droplets maintenance; may play a tissue-autonomous role in controlling lipid storage in adipocytes and in preventing ectopic lipid droplet formation in non-adipose tissues.^{[1] [2]}

References

1. ↑ Boutet E, El Mourabit H, Prot M, Nemani M, Khallouf E, Colard O, Maurice M, Durand-Schneider AM, Chretien Y, Gres S, Wolf C, Saulnier-Blache JS, Capeau J, Magre J. Seipin deficiency alters fatty acid Delta9 desaturation and lipid droplet formation in Berardinelli-Seip congenital lipodystrophy. Biochimie. 2009 Jun;91(6):796-803. doi: 10.1016/j.biochi.2009.01.011. Epub 2009, Feb 6. PMID:19278620 doi:http://dx.doi.org/10.1016/j.biochi.2009.01.011
2. ↑ Tian Y, Bi J, Shui G, Liu Z, Xiang Y, Liu Y, Wenk MR, Yang H, Huang X. Tissue-autonomous function of Drosophila seipin in preventing ectopic lipid droplet formation. PLoS Genet. 2011 Apr;7(4):e1001364. doi: 10.1371/journal.pgen.1001364. Epub 2011 , Apr 14. PMID:21533227 doi:http://dx.doi.org/10.1371/journal.pgen.1001364
3. ↑ Yan R, Qian H, Lukmantara I, Gao M, Du X, Yan N, Yang H. Human SEIPIN Binds Anionic Phospholipids. Dev Cell. 2018 Oct 22;47(2):248-256.e4. doi: 10.1016/j.devcel.2018.09.010. Epub, 2018 Oct 4. PMID:30293840 doi:http://dx.doi.org/10.1016/j.devcel.2018.09.010