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PHEX

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.
Protein class

Disease related genes, Enzymes, Human disease related genes, Plasma proteins, Potential drug targets

Predicted location

Membrane

Single cell type specificity

Group enriched (Granulosa cells, dendritic cells)

Immune cell specificity

Immune cell enriched (plasmacytoid DC)

Cell line specificity

Cell line enhanced (HBEC3-KT, HUVEC TERT2, PC-3, TIME, U-87 MG, WM-115)

Interaction

Interacts with MEPE; the interaction is zinc-dependent (via ASARM motif).

Molecular function

Hydrolase, Metalloprotease, Protease

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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