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
