基因注释：PICALM

官方名称：phosphatidylinositol binding clathrin assembly protein

功能摘要：This gene encodes a clathrin assembly protein, which recruits clathrin and adaptor protein complex 2 (AP2) to cell membranes at sites of coated-pit formation and clathrin-vesicle assembly. The protein may be required to determine the amount of membrane to be recycled, possibly by regulating the size of the clathrin cage. The protein is involved in AP2-dependent clathrin-mediated endocytosis at the neuromuscular junction. A chromosomal translocation t(10;11)(p13;q14) leading to the fusion of this gene and the MLLT10 gene is found in acute lymphoblastic leukemia, acute myeloid leukemia and malignant lymphomas. The polymorphisms of this gene are associated with the risk of Alzheimer disease. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011].

• HNRNPM 综合评分: 0.474 · 证据 2 条
• FUS 综合评分: 0.424 · 证据 1 条
• fus 综合评分: 0.424 · 证据 1 条
• HNRNPA2B1 综合评分: 0.412 · 证据 2 条
• HNRNPC 综合评分: 0.412 · 证据 2 条
• HNRNPH1 综合评分: 0.412 · 证据 2 条
• QKI 综合评分: 0.412 · 证据 1 条
• HNRNPD 综合评分: 0.362 · 证据 2 条
• KHSRP 综合评分: 0.362 · 证据 2 条
• PTBP1 综合评分: 0.362 · 证据 2 条
• RBFOX2 综合评分: 0.362 · 证据 2 条
• HNRNPA1 综合评分: 0.350 · 证据 2 条
• MBNL1 综合评分: 0.350 · 证据 2 条
• PRPF8 综合评分: 0.324 · 证据 1 条
• HNRNPK 综合评分: 0.300 · 证据 2 条
• HNRNPL 综合评分: 0.300 · 证据 2 条
• HNRNPU 综合评分: 0.300 · 证据 2 条
• SRSF2 综合评分: 0.300 · 证据 1 条
• SRSF3 综合评分: 0.300 · 证据 1 条
• SRSF9 综合评分: 0.300 · 证据 1 条

该基因暂无关联疾病记录