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怎么没人回答?自己先顶一下,是这个基因吗?感觉又不是。
7 e t8 _9 O" iOfficial Full Namealkaline phosphatase, liver/bone/kidney3 z! N; R0 F( L" s1 P
Also known asALP; Akp2; TNAP; Akp-2; APTNAP; {4 w# ?/ Z+ N; k
Summary:This gene encodes a preproprotein that is proteolytically cleaved to yield a signal peptide and a proproptein that is subsequently processed to generate the active mature peptide. The encoded protein is a membrane-bound glycosylated enzyme that catalyzes the hydrolysis of phosphate esters at alkaline pH. The mature peptide maintains the ratio of inorganic phosphate to inorganic pyrophosphate required for bone mineralization. Mice that lack this enzyme show symptoms of osteomalacia, softening of the bones. In humans, mutations in this gene are associated with hypophosphatasia, an inherited metabolic bone disease in which deficiency of this enzyme inhibits bone mineralization leading to skeletal defects. Mutations in the mouse gene mirror the symptoms of human hypophosphatasia. A pseudogene of this gene is present on chromosome X. Alternative splicing results in multiple transcript variants |
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