Alpl Gene Search Result

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RGD ID	Symbol	Name	Description	Chr	Start	Stop	Species	Annotations	Match	Type
731885	Alpl	alkaline phosphatase, liver/bone/kidney	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 alkalin ... (more) e 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. [provided by RefSeq, Aug 2015]	4	137469042	137523695	Mouse	867	symbol , PhenoGen	gene, protein-coding, VALIDATED [RefSeq]