GeneID: 20
Names
| Common Name: | PHEX | Type: | Gene |
|---|---|---|---|
| Chromosome: | X (NC_000023.11) | Locus: | NG_007563.1 (PHEX) |
| HUGO Symbol: | PHEX | Full Name: | Phosphate regulating endopeptidase homolog, X-linked |
| Exons: | 22 | Introns: | 21 |
Description:
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. Variations in the PHEX gene have been associated with the modulation of F-cell levels.
Synonyms: HYP , PEX , XLH , HPDR , HYP1 , LXHR , HPDR1
Comments:
N/A
Number of entries/variants: 2
Publications / Origin
- Francis F, Strom TM, Hennig S, Böddrich A, Lorenz B, Brandau O, Mohnike KL, Cagnoli M, Steffens C, Klages S, Borzym K, Pohl T, Oudet C, Econs MJ, Rowe PS, Reinhardt R, Meitinger T, Lehrach H, Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets., Genome Res. , 7(6), 573-85, 1997
- Grieff M, Mumm S, Waeltz P, Mazzarella R, Whyte MP, Thakker RV, Schlessinger D, Expression and cloning of the human X-linked hypophosphatemia gene cDNA., Biochem. Biophys. Res. Commun. , 231(3), 635-9, 1997
- Solovieff N, Milton JN, Hartley SW, Sherva R, Sebastiani P, Dworkis DA, Klings ES, Farrer LA, Garrett ME, Ashley-Koch A, Telen MJ, Fucharoen S, Ha SY, Li CK, Chui DH, Baldwin CT, Steinberg MH, Fetal hemoglobin in sickle cell anemia: genome-wide association studies suggest a regulatory region in the 5' olfactory receptor gene cluster., Blood , 115(9), 1815-22, 2010