GENETIC ENCYCLOPEDIA
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gene: JUP

id3728
symbolJUP
organismHomo sapiens
full namejunction plakoglobin
summaryThis gene encodes a major cytoplasmic protein which is the only known constituent common to submembranous plaques of both desmosomes and intermediate junctions. This protein forms distinct complexes with cadherins and desmosomal cadherins and is a member of the catenin family since it contains a distinct repeating amino acid motif called the armadillo repeat. Mutation in this gene has been associated with Naxos disease. Alternative splicing occurs in this gene; however, not all transcripts have been fully described. [provided by RefSeq, Jul 2008]
variant-disease

NM_002230.2(JUP):c.1379G>A (p.Arg460His) AND not specified

NM_002230.3(JUP):c.1715G>T (p.Arg572Leu) AND not specified

NM_002230.2(JUP):c.213T>C (p.Asp71=) AND not specified

NM_021991.3(JUP):c.405C>T (p.Asp135=) AND not specified

NM_002230.2(JUP):c.486G>A (p.Ala162=) AND not specified

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