KAZALD1 - Kazal type serine peptidase inhibitor domain 1 Gene

中文名称：Kazal 型丝氨酸肽酶抑制因子结构域 1

种属: Homo sapiens

同用名: BONO1; FKSG28; FKSG40; IGFBP-rP10

关于 KAZALD1

功能概要

该基因编码胰岛素生长因子结合蛋白 (IGFBP) 超家族的一个分泌型成员。该蛋白在其 N 端区域包含一个胰岛素生长因子结合结构域，在其中心区域包含一个 Kazal 型丝氨酸蛋白酶抑制剂和卵泡抑素样结构域，在其 C 端区域包含一个免疫球蛋白样结构域。对小鼠直系同源物的研究表明，这种蛋白质可能在骨骼发育和骨骼再生中发挥作用。与低级别胶质瘤相比，该基因在高级别胶质瘤中低甲基化和过度表达，因此低甲基化基因可能与细胞增殖和高级别胶质瘤患者的生存期较短有关。它也是在一种新的 5.54 Mb 间质缺失中被发现缺失的众多基因之一，这种缺失与多种先天性异常有关。可变剪接导致多个转录本变体。[RefSeq 提供，2016 年 2 月]

This gene encodes a secreted member of the Insulin growth factor-binding protein (IGFBP) superfamily. The protein contains an Insulin growth factor-binding domain in its N-terminal region, a Kazal-type Serine Protease Inhibitor and follistatin-like domain in its central region, and an immunoglobulin-like domain in its C-terminal region. Studies of the mouse ortholog suggest that this protein may function in bone development and bone regeneration. This gene is hypomethylated and over-expressed in high-grade glioma compared to low-grade glioma, and thus the hypomethylated gene may be associated with cell proliferation and the shorter survival of patients with high-grade glioma. It is also one of numerous genes found to be deleted in a novel 5.54 Mb interstitial deletion, which is associated with multiple congenital anomalies. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]