| ncRNA Symbol: | PHEX |
| Full Name: | phosphate regulating endopeptidase homolog X-linked |
| Category: | mRNA |
| Synonyms: | HPDR|HPDR1|HYP|HYP1|LXHR|PEX|XLH |
| Chromosome: | chrX |
| Strand: | + |
| Coordinate: | | Start Site(bp): | 22032441 | End Site(bp): | 22251310 |
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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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] |
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