Pkp1 Gene Search Result

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2 records found for search term Pkp1

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RGD ID	Symbol	Name	Description	Chr	Start	Stop	Species	Annotations	Match	Type
1316687	PKP1	plakophilin 1	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 ... (more) 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]	1	201283506	201332989	Human	209	symbol , COSMIC , Human Proteome Map	gene, protein-coding, REVIEWED [RefSeq]
1317269	PKP4	plakophilin 4	Armadillo-like proteins are characterized by a series of armadillo repeats, first defined in the Drosophila 'armadillo' gene product, that are typically 42 to 45 amino acids in length. These proteins can be divided into subfamilies based on their number of repeats, their overall sequence similarity, ... (more) and the dispersion of the repeats throughout their sequences. Members of the p120(ctn)/plakophilin subfamily of Armadillo-like proteins, including CTNND1, CTNND2, PKP1, PKP2, PKP4, and ARVCF. PKP4 may be a component of desmosomal plaque and other adhesion plaques and is thought to be involved in regulating junctional plaque organization and cadherin function. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2015]	2	158456952	158681429	Human	163	description	gene, protein-coding, REVIEWED [RefSeq]