PF23583

PLCG2-like, EF-hand

Pfam entry
Member databasePfam
Pfam typedomain
Short nameEF-hand_PLCG2
ClanEF_hand
Author Bateman A;0000-0002-6982-4660 Lazaro Pinto Beatriz;0000-0001-6837-2941
Sequence Ontology0000417

Description

This entry represents an EF-hand domain found in human 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2 (PLCG2) and similar animal proteins. PLCG2 is a crucial enzyme in transmembrane signalling. This protein has been associated with several disorders
[2, 1]
.

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

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