Primary Identifier | IPR028745 | Type | Family |
Short Name | AKAP9/Pericentrin |
description | A-kinase anchor protein 9 (AKAP9, also known as AKAP 350) and pericentrin (pericentrin-B, kendrin) are large coiled-coil proteins found in mammalian centrosomes that serve to recruit structural and regulatory components including dynein and protein kinase [, ]. These scaffold proteins contain a pericentrin-AKAP-450 centrosomal targeting (PACT) domain [].Mutations of AKAP9 cause long QT syndrome 11 (LQT11), which is a heart disorder characterised by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias []. AKAP9 has also been implicated in breast cancer []and sporadic papillary thyroid carcinomas []. In mice, AKAP9 is essential for Spermatogenesis and sertoli cell maturation []. |