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Immunogen sequence: YTVRNLMASQ PQLAKQYFSS SMLNNIINLC RSSASPKAAE AARLLLSDMW SSKELQGVLR QQGFDRNMLG TLAGANSLRN FTSRF
This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This protein may be involved in molecular recruitment and stabilization during desmosome formation. Mutations in this gene have been associated with the ectodermal dysplasia/skin fragility syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010].
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: B6P; Band 6 protein; MGC138829; Plakophilin-1
基因别名: B6P; PKP1
UniProt ID: (Human) Q13835
Entrez Gene ID: (Human) 5317, (Rat) 304822