Alpl Gene Search Result

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RGD ID	Symbol	Name	Description	Chr	Start	Stop	Species	Annotations	Match	Type
1346147	ALPL	alkaline phosphatase, biomineralization associated	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 no ... (more) n-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]	1	21508984	21578410	Human	1396	symbol , COSMIC , Human Proteome Map	gene, protein-coding, REVIEWED [RefSeq]