Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0024523 (
malabsorption
)
7,319
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Familial hypercholanemia (FHC) is characterized by elevated serum bile acid concentrations, itching, and fat
malabsorption
. We show here that FHC in Amish individuals is associated with mutations in tight junction protein 2 (encoded by TJP2, also known as ZO-2) and
bile acid Coenzyme A: amino acid N-acyltransferase
(encoded by
BAAT
). The mutation of TJP2, which occurs in the first PDZ domain, reduces domain stability and ligand binding in vitro. We noted a morphological change in hepatic tight junctions. The mutation of
BAAT
, a bile acid-conjugating enzyme, abrogates enzyme activity; serum of individuals homozygous with respect to this mutation contains only unconjugated bile acids. Mutations in both TJP2 and
BAAT
may disrupt bile acid transport and circulation. Inheritance seems to be oligogenic, with genotype at
BAAT
modifying penetrance in individuals homozygous with respect to the mutation in TJP2.
...
PMID:Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT. 1270 86
