Structural highlights
Disease
EBP_HUMAN MEND syndrome;X-linked dominant chondrodysplasia punctata. 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
EBP_HUMAN Catalyzes the conversion of Delta(8)-sterols to their corresponding Delta(7)-isomers.[1] [2] [3]
References
- ↑ Moebius FF, Fitzky BU, Wietzorrek G, Haidekker A, Eder A, Glossmann H. Cloning of an emopamil-binding protein (EBP)-like protein that lacks sterol delta8-delta7 isomerase activity. Biochem J. 2003 Aug 15;374(Pt 1):229-37. PMID:12760743 doi:http://dx.doi.org/10.1042/BJ20030465
- ↑ Silve S, Dupuy PH, Labit-Lebouteiller C, Kaghad M, Chalon P, Rahier A, Taton M, Lupker J, Shire D, Loison G. Emopamil-binding protein, a mammalian protein that binds a series of structurally diverse neuroprotective agents, exhibits delta8-delta7 sterol isomerase activity in yeast. J Biol Chem. 1996 Sep 13;271(37):22434-40. PMID:8798407
- ↑ Moebius FF, Soellner KE, Fiechtner B, Huck CW, Bonn G, Glossmann H. Histidine77, glutamic acid81, glutamic acid123, threonine126, asparagine194, and tryptophan197 of the human emopamil binding protein are required for in vivo sterol delta 8-delta 7 isomerization. Biochemistry. 1999 Jan 19;38(3):1119-27. PMID:9894009 doi:http://dx.doi.org/10.1021/bi981804i
