Member database | Pfam |
Pfam type | domain |
Short name | EF-hand_PLCG2 |
Clan | EF_hand |
Author | Bateman A;0000-0002-6982-4660 Lazaro Pinto Beatriz;0000-0001-6837-2941 |
Sequence Ontology | 0000417 |
Description
References
1.A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency. Zhou Q, Lee GS, Brady J, Datta S, Katan M, Sheikh A, Martins MS, Bunney TD, Santich BH, Moir S, Kuhns DB, Long Priel DA, Ombrello A, Stone D, Ombrello MJ, Khan J, Milner JD, Kastner DL, Aksentijevich I. Am. J. Hum. Genet. 91, 713-20, (2012). View articlePMID: 23000145
2.Structural basis for the activation of PLC-γ isozymes by phosphorylation and cancer-associated mutations. Hajicek N, Keith NC, Siraliev-Perez E, Temple BR, Huang W, Zhang Q, Harden TK, Sondek J. Elife 8, e51700, (2019). View articlePMID: 31889510