Gene: [0Xp22/PHEX] phosphate regulating gene with homologies to endopeptidases on the X chromosome; phosphate regulating endopeptidase homolog, X-linked (PEX); hypophosphatemia, vitamin D resistant rickets I;


REF

CLO,SEQ,MUT,MOU "Beck L &: J Clin Invest, 99, N6, 1200-1209, 1997
MUT,REV "Econs MJ &: Am J Physiol, 273, N4 (Part 2), F489-498, 1997
CLO,SEQ,GEN,FUN "Francis F &: Genome Res, 7, N6, 573-585, 1997
CLO,SEQ "Francis F &: Nature Genet, 11, 130-136, 1995
CLO,SEQ "Grieff M &: BBRC, 231, 635-639, 1997
CLO,SEQ "Guo R, Quarles LD: J Bone Miner Res, 12, 1009-1017, 1997
CLO,SEQ,GEN,MUT "Holm IA &: AJHG, 60, N4, 790-797, 1997
MAP "Machler M &: Hum Genet, 73, 271-275, 1986
PAT "Nehgme R &: J Clin Endocrinol Metab, 82, N8, 2450-2454, 1997
MAP "Read AP &: Hum Genet, 73, 267-270, 1986
MUT "Rowe PS &: Hum Mol Genet, 6, N4, 539-549, 1997
MOU,MUT,MOD "Strom TM &: Hum Mol Genet, 6, N2, 165-171, 1997
POL "Thakker RV &: CCG, 46, (HGM9), 703-704, 1987a
MAP "Thakker RV &: J Med Genet, 24, 756-760, 1987b
TER "Verge CF &: New Engl J Med, 325, N26, 1843-1848, 1991

SWI

SWISSPROT: P78562

KEY

bone, horm, vit, ion, mtbd

CLA

coding, basic

LOC

0X p22.2-.1

MIM

MIM: 307800

EZN

ENZYME: 3.4.24.?

鸯铗痂蝈 蜞赕:

  • Gene: [0Xp221/SMS] spermine synthase;
  • Gene: [0Xp1122/CLCN5] chloride channel 5; nephrolithiasis, X-linked recessive, type 1 (NPHL1; MIM:310468); nephrolithiasis, X-linked recessive, type 2 (NPHL2; Dent disease; MIM:300009); Fanconi syndrome, renal, with nephrocalcinosis and ren
  • 缅 觐眚痤腓痼栝 蝠囗耧铕 纛耵囹
  • 缅, 腩赅腓珙忄眄 磬 震22: 祗蜞鲨