Plays a role in tight junctions and adherens junctions.
Familial hypercholanemia
FHCA
A disorder characterized by elevated serum bile acid concentrations, itching, and fat malabsorption.
None
The disease may be caused by variants affecting distinct genetic loci, including the gene represented in this entry.
Cholestasis, progressive familial intrahepatic, 4
PFIC4
A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood.
None
The disease is caused by variants affecting the gene represented in this entry.
Belongs to the MAGUK family.
This protein is found in epithelial cell junctions. Isoform A1 is abundant in the heart and brain. Detected in brain and skeletal muscle. It is present almost exclusively in normal tissues. Isoform C1 is expressed at high level in the kidney, pancreas, heart and placenta. Not detected in brain and skeletal muscle. Found in normal as well as in most neoplastic tissues.
Proteins
133958Da
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