Gene Symbol | PHEX |
Entrez Gene ID | 5251 |
Full Name | phosphate regulating endopeptidase homolog X-linked |
Synonyms | HPDR,HPDR1,HYP,HYP1,LXHR,PEX,XLH |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Hypophosphatemic rickets, X-linked dominant, 307800 (3) |