| Entrez gene ID | | 5251 |
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| Official gene symbol | | PHEX |
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| Full name | | phosphate regulating endopeptidase homolog, X-linked |
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| Aliases | | ,HPDR,HPDR1,HYP,HYP1,PEX,XLH, |
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| Gene summary | | The protein encoded by this gene is a transmembrane endopeptidase that belongs to the type II integral membrane zinc-dependent endopeptidase family. The protein is thought to be involved in bone and dentin mineralization and renal phosphate reabsorption. Mutations in this gene cause X-linked hypophosphatemic rickets. [provided by RefSeq] |
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| Location | | Chromosome: X Locus: Xp22.2-p22.1 |
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| Gene position | | 22050921 - 22266478 Map Viewer |
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| Gene orientation | | plus |
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| Gene size | | 215558 bp |
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| Gene sequence |
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| OMIM ID | | 300550 |
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