🧬 基因注释：SACM1L

官方名称：SAC1 like phosphatidylinositide phosphatase

功能摘要：This gene encodes an integral membrane protein, which is localized to the endoplasmic reticulum, and functions as a phosphoinositide phosphatase that hydrolyzes phosphatidylinositol 3-phosphate, phosphatidylinositol 4-phosphate, and phosphatidylinositol 3,5-bisphosphate. Deletion of this gene in mouse results in preimplantation lethality. Other studies suggest that this gene is also involved in the organization of golgi membranes and mitotic spindles. Alternatively spliced transcript variants have been found for this gene. A C-terminally extended isoform is also predicted to be produced by the use of an alternative in-frame, downstream translation termination codon via a stop codon readthrough mechanism.[provided by RefSeq, Dec 2017].

• HNRNPC 综合评分: 0.510 · 证据 2 条
• HNRNPA1 综合评分: 0.412 · 证据 2 条
• HNRNPM 综合评分: 0.412 · 证据 2 条
• PTBP1 综合评分: 0.398 · 证据 2 条
• RBFOX2 综合评分: 0.362 · 证据 2 条
• HNRNPA2B1 综合评分: 0.350 · 证据 2 条
• HNRNPH1 综合评分: 0.350 · 证据 2 条
• FUS 综合评分: 0.300 · 证据 1 条
• HNRNPL 综合评分: 0.300 · 证据 2 条
• HNRNPU 综合评分: 0.300 · 证据 2 条
• KHSRP 综合评分: 0.300 · 证据 2 条
• SRSF9 综合评分: 0.300 · 证据 1 条
• fus 综合评分: 0.300 · 证据 1 条
• CSTF2 综合评分: 0.274 · 证据 2 条
• Nova2 综合评分: 0.262 · 证据 1 条
• EWSR1 综合评分: 0.250 · 证据 2 条
• FUBP1 综合评分: 0.250 · 证据 2 条
• RBM10 综合评分: 0.250 · 证据 2 条
• RBM15 综合评分: 0.250 · 证据 2 条
• RBM22 综合评分: 0.250 · 证据 2 条

该基因暂无关联疾病记录