Gene: [07q31/DRA] protein DRA (down-regulated in adenoma); congenital chloride diarrhea (MIM:214700); [CLD ]

MUT

Finnish form of congenital chloride diarrhea is caused by a mutation in the DRA gene (FER:Hoglund-1996). Homozygosity for the same mutation, deletion of GGT(val) of codon 317, was found in all 32 patients studied."

REF

PAT,MCH,TER "Aichbichler BW &: New Engl J Med, 336, N2, 106-109, 1997
PAT,LOC,MAF,MUT "Hoglund P &: Genome Res, 6, N3, 202-210, 1996
PAT,LIN,LOC "Kere J &: PNAS, 90, 10686-10689, 1993
SEQ "Schweinfest CW &: PNAS, 90, 4166-4170, 1993
LOC "Taguchi T &: Genomics, 20, 146-147, 1994

SWI

 SWISSPROT: P40879

KEY

mem, ion, git

CLA

coding, basic

LOC

07 q31

MIM

 MIM: 126650

SYN

CLD