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 renal stones (MIM:300009); [NPHL1 NPHL2 ]


CAG

Lloyd-1996 found mutations in the CLCN5 gene in each of 11 kindreds with different renal tubular disorders complicated by kidney stone formation (nephrolithiasis): NPHL1, NPHL2, and HPDR (X-linked recessive hypophosphatemic D-resistant rickets). Another form of HPDR has been mapped to Xp22 (GEM:0Xp22/PHEX), see also MIM:307810."

REF

LOC,SEQ,GEN,MUT "Fisher SE &: Genomics, 29, 598-606, 1995
CLO,EXP,PAT "Fisher SE &: Hum Mol Genet, 3, 2053-2059, 1994
PAT "Frymoyer PA &: New Engl J Med, 325, 681-686, 1991
MOL,PAT "Lloyd SE &: Nature, 370, 445-449, 1996
LOC,MUT "Pook MA &: Hum Mol Genet, 2, 2129-2134, 1993
LOC,MUT "Scheinman SJ &: J Clin Invest, 91, 2351-2357, 1993

SWI

 SWISSPROT: P51795

KEY

ion, mem, neu

CLA

coding, basic

LOC

0X p11.22

MIM

 MIM: 300008

SYN

NPHL1 NPHL2

Смотрите также:

  • Gene: [07q35/CLCN1] chloride channel 1, skeletal muscle; Thomsen's disease (myotonia congenita; autosomal dominant; MIM:160800); Becker's disease (generalized myotonia; autosomal recessive; MIM:255700);
  • HUGEN-канал хлорный