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. Polymorphism in the EIF2S3 gene has moderately strong association with HbF levels.

Synonyms: HYP , PEX , XLH , HPDR , HYP1 , LXHR , HPDR1

Comments:
N/A

Sequence Viewer

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Publications / Origin

  1. 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 PubMed
  2. 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 PubMed
  3. 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 PubMed
Created on 2014-04-01 14:19:10, Last reviewed on 2016-04-28 12:46:16 (Show full history)


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