| 1 | DOORS, PIGB, PIGBD, TBC1D24 |
| Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases. | |
| Murakami Y, Nguyen TTM, Baratang N, Raju PK, Knaus A, Ellard S, Jones G, Lace B, Rousseau J, Ajeawung NF, Kamei A, Minase G, Akasaka M, Araya N, Koshimizu E, van den Ende J, Erger F, Altmüller J, Krumina Z, Strautmanis J, Inashkina I, Stavusis J, El-Gharbawy A, Sebastian J, Puri RD, Kulshrestha S, Verma IC, Maier EM, Haack TB, Israni A, Baptista J, Gunning A, Rosenfeld JA, Liu P, Joosten M, Rocha ME, Hashem MO, Aldhalaan HM, Alkuraya FS, Miyatake S, Matsumoto N, Krawitz PM, Rossignol E, Kinoshita T, Campeau PM. | |
| Am J Hum Genet 105(2):384-394. doi: 10.1016/j.ajhg.2019.05.019. Epub 2019 Jun 27. 2019 | |
| 2 | PIGB |
| Complementation of essential yeast GPI mannosyltransferase mutations suggests a novel specificity for certain Trypanosoma and Plasmodium PigB proteins. | |
| Cortes LK, Scarcelli JJ, Taron CH. | |
| PLoS One 9(1):e87673. doi: 10.1371/journal.pone.0087673. eCollection 2014. 2014 | |
| 3 | PIGB |
| PIG-B a membrane protein of the endoplasmic reticulum with a large lumenal domain, is involved in transferring the third mannose of the GPI anchor. | |
| Takahashi M, et al. | |
| EMBO J 15 : 4254-4261. 1996 | |