1 | CHIME, PIGL |
Mutations in the Glycosylphosphatidylinositol Gene PIGL Cause CHIME Syndrome. | |
Ng BG, Hackmann K, Jones MA, Eroshkin AM, He P, Wiliams R, Bhide S, Cantagrel V, Gleeson JG, Paller AS, Schnur RE, Tinschert S, Zunich J, Hegde MR, Freeze HH. | |
Am J Hum Genet 90(4):685-8. Epub 2012 Mar 22. 2012 | |
2 | PIGL |
The N-acetyl-D-glucosaminylphosphatidylinositol De-N-acetylase of glycosylphosphatidylinositol biosynthesis is a zinc metalloenzyme. | |
Urbaniak MD, Crossman A, Chang T, Smith TK, van Aalten DM, Ferguson MA. | |
J Biol Chem 280(24):22831-8. Epub 2005 Apr 6. 2005 | |
3 | PIGL |
Mammalian PIG-L and its yeast homologue Gpi12p areN-acetylglucosaminylphosphatidylinositol de-N-acetylases essential in glycosylphosphatidylinositol biosynthesis. | |
Watanabe R, et al. | |
Biochem J 339(Pt 1):185-192. 1999 | |
4 | PIGA, PIGC, PIGH, PIGL, PIGQ |
The first step of glycosylphosphatidylinositol biosynthesis is mediated by a complex of PIG-A, PIG-H, PIG-C and GPI1. | |
Watanabe R, Inoue N, Westfall B, Taron CH, Orlean P, Takeda J, Kinoshita T. | |
EMBO J 17(4):877-85. 1998 | |