🧬 基因注释：CYP27B1

官方名称：cytochrome P450 family 27 subfamily B member 1

功能摘要：This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The protein encoded by this gene localizes to the inner mitochondrial membrane where it hydroxylates 25-hydroxyvitamin D3 at the 1alpha position. This reaction synthesizes 1alpha,25-dihydroxyvitamin D3, the active form of vitamin D3, which binds to the vitamin D receptor and regulates calcium metabolism. Thus this enzyme regulates the level of biologically active vitamin D and plays an important role in calcium homeostasis. Mutations in this gene can result in vitamin D-dependent rickets type I. [provided by RefSeq, Jul 2008].

• HNRNPC 综合评分: 0.474 · 证据 2 条
• Rbmx 综合评分: 0.260 · 证据 1 条
• RBM10 综合评分: 0.250 · 证据 2 条
• RBM15 综合评分: 0.250 · 证据 2 条
• GRSF1 综合评分: 0.248 · 证据 2 条
• PRPF8 综合评分: 0.200 · 证据 1 条
• Rnps1 综合评分: 0.162 · 证据 1 条
• CPSF6 综合评分: 0.150 · 证据 2 条
• CSTF2 综合评分: 0.150 · 证据 2 条
• Srsf1 综合评分: 0.150 · 证据 1 条
• U2af1 综合评分: 0.150 · 证据 1 条
• CPSF2 综合评分: 0.100 · 证据 1 条
• CSTF2T 综合评分: 0.100 · 证据 2 条
• EIF4A3 综合评分: 0.100 · 证据 2 条
• NXF1 综合评分: 0.100 · 证据 1 条
• Rbm7 综合评分: 0.100 · 证据 1 条
• U2af2 综合评分: 0.100 · 证据 1 条
• UPF1 综合评分: 0.100 · 证据 1 条
• YBX1 综合评分: 0.100 · 证据 1 条

该基因暂无关联疾病记录