🧬 基因注释：KAZALD1
官方名称：Kazal type serine peptidase inhibitor domain 1
功能摘要：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].
- Tardbp 综合评分: 0.434 · 证据 1 条
- HNRNPK 综合评分: 0.362 · 证据 2 条
- HNRNPH1 综合评分: 0.350 · 证据 2 条
- HNRNPU 综合评分: 0.300 · 证据 2 条
- PTBP1 综合评分: 0.300 · 证据 2 条
- SRSF9 综合评分: 0.300 · 证据 1 条
- PRPF8 综合评分: 0.262 · 证据 1 条
- RBM15 综合评分: 0.250 · 证据 2 条
- UPF1 综合评分: 0.224 · 证据 1 条
- U2af1 综合评分: 0.212 · 证据 1 条
- PCBP2 综合评分: 0.200 · 证据 1 条
- SF3A3 综合评分: 0.200 · 证据 1 条
- Rbm7 综合评分: 0.198 · 证据 1 条
- Rnps1 综合评分: 0.198 · 证据 1 条
- CSTF2T 综合评分: 0.162 · 证据 2 条
- CSTF2 综合评分: 0.150 · 证据 2 条
- PRPF4 综合评分: 0.150 · 证据 1 条
- Srsf1 综合评分: 0.150 · 证据 1 条
- CPSF1 综合评分: 0.100 · 证据 1 条
- EIF4A3 综合评分: 0.100 · 证据 2 条
该基因暂无关联疾病记录