Aliases for PHEX Gene
- Phosphate Regulating Endopeptidase Homolog, X-Linked 2 3 5
- Phosphate Regulating Gene With Homologies To Endopeptidases On The X Chromosome (Hypophosphatemia, Vitamin D Resistant Rickets) 2 3
- Vitamin D-Resistant Hypophosphatemic Rickets Protein 3 4
- X-Linked Hypophosphatemia Protein 3 4
- Metalloendopeptidase Homolog PEX 3 4
- HYP 3 4
- PEX 3 4
External Ids for PHEX Gene
Previous HGNC Symbols for PHEX Gene
Previous GeneCards Identifiers for PHEX Gene
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]
GeneCards Summary for PHEX Gene
PHEX (Phosphate Regulating Endopeptidase Homolog, X-Linked) is a Protein Coding gene. Diseases associated with PHEX include hypophosphatemic rickets, x-linked dominant and rickets. GO annotations related to this gene include metalloendopeptidase activity and aminopeptidase activity. An important paralog of this gene is MMEL1.
UniProtKB/Swiss-Prot for PHEX Gene
Probably involved in bone and dentin mineralization and renal phosphate reabsorption.