JUP(redirected from ARVD12)
JUPA gene on chromosome 17q21 that encodes a major cytoplasmic protein common to both submembranous plaques of desmosomes and intermediate junctions. JUP forms distinct complexes with cadherins, belongs to the catenin family and contains a distinct amino acid motif known as armadillo repeat.
JUP mutations are associated with Naxos disease.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.