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 |
