PHEX

PHEX
Identifiers
AliasesPHEX, HPDR, HPDR1, HYP, HYP1, LXHR, PEX, XLH, phosphate regulating endopeptidase homolog, X-linked, phosphate regulating endopeptidase homolog X-linked
External IDsOMIM: 300550; MGI: 107489; HomoloGene: 37310; GeneCards: PHEX; OMA:PHEX - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000444
NM_001282754

NM_011077

RefSeq (protein)

NP_000435
NP_001269683

NP_035207

Location (UCSC)Chr X: 22.03 – 22.49 MbChr X: 155.95 – 156.2 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Phosphate-regulating endopeptidase homolog X-linked also known as phosphate-regulating gene with homologies to endopeptidases on the X chromosome or metalloendopeptidase homolog PEX is an enzyme that in humans is encoded by the PHEX gene.[5][6] This gene contains 18 exons and is located on the X chromosome.

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000102174Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000057457Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Francis F, Hennig S, Korn B, Reinhardt R, De Jong P, Poustka A, et al. (October 1995). "A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP Consortium". Nature Genetics. 11 (2): 130–136. doi:10.1038/ng1095-130. PMID 7550339. S2CID 6424732.
  6. ^ Grieff M, Mumm S, Waeltz P, Mazzarella R, Whyte MP, Thakker RV, Schlessinger D (February 1997). "Expression and cloning of the human X-linked hypophosphatemia gene cDNA". Biochemical and Biophysical Research Communications. 231 (3): 635–639. doi:10.1006/bbrc.1997.6153. PMID 9070861.