該基因編碼的蛋白上調了wilms腫瘤蛋白的轉錄激活,并與許多其他蛋白相互作用,包括ctnnb1、apc、axin1和axin2。這種基因的缺陷是導致頭顱硬化(OSCS)的紋狀體骨病變的原因。
The protein encoded by this gene upregulates trancriptional activation by the Wilms tumor protein and interacts with many other proteins, including CTNNB1, APC, AXIN1, and AXIN2. Defects in this gene are a cause of osteopathia striata with cranial sclerosis (OSCS).