🧬 基因注释：ALPL

官方名称：alkaline phosphatase, biomineralization associated

功能摘要：This gene encodes a member of the alkaline phosphatase family of proteins. There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The first three are located together on chromosome 2, while the tissue non-specific form is located on chromosome 1. The product of this gene is a membrane bound glycosylated enzyme that is not expressed in any particular tissue and is, therefore, referred to as the tissue-nonspecific form of the enzyme. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature enzyme. This enzyme may play a role in bone mineralization. Mutations in this gene have been linked to hypophosphatasia, a disorder that is characterized by hypercalcemia and skeletal defects. [provided by RefSeq, Oct 2015].

• HNRNPC 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
• RBFOX2 综合评分: 0.300 · 证据 2 条
• EWSR1 综合评分: 0.250 · 证据 2 条
• RBM10 综合评分: 0.250 · 证据 2 条
• Srsf3 综合评分: 0.212 · 证据 1 条
• Srsf2 综合评分: 0.150 · 证据 1 条
• Tardbp 综合评分: 0.150 · 证据 1 条
• U2af1 综合评分: 0.150 · 证据 1 条
• CPSF3 综合评分: 0.100 · 证据 1 条
• Rbpms 综合评分: 0.100 · 证据 1 条
• Snrpa 综合评分: 0.100 · 证据 1 条
• U2af2 综合评分: 0.100 · 证据 1 条

该基因暂无关联疾病记录