基因名:
WWC1
产品别名:
HBEBP3; HBEBP36; KIBRA; MEMRYQTL; PPP1R168; WWC1; WW and C2 domain containing 1; WW and C2 domain containing 1; protein KIBRA; HBeAg-binding protein 3; WW, C2 and coiled-coil domain containing 1; kidney and brain protein; protein WWC1; protein phosphatase 1, regulatory subunit 168; 肾脏和脑蛋白; 肾脏脑蛋白(KIBRA);
背景信息:
KIBRA is a 1,113 amino acid protein that localizes to the cytoplasm and contains one C2 domain and two WW domains. Expressed in colon, brain, kidney and heart tissue, KIBRA is thought to interact with dendrin and, via this interaction, may play a role in collagen-induced signaling. Additionally, KIBRA, which exists as multiple alternatively spliced isoforms, is involved in memory performance and in the pathogenesis of Alzheimer's disease. The gene encoding KIBRA maps to human chromosome 5, which contains 181 million base pairs and comprises nearly 6% of the human genome. Deletion of the p arm of chromosome 5 leads to Cri du chat syndrome, while deletion of the q arm or of chromosome 5 altogether is common in therapy-related acute myelogenous leukemias and myelodysplastic syndrome.