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EPPK1 - Gene Detail

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Gene Symbol EPPK1
Synonyms EPIPL | EPIPL1
Gene Description EPPK1, epiplakin 1, is a member of the plakin family of proteins involved in keratin reorganization (PMID: 25617501), maintenance of intermediate filaments network, and keratinocyte differentiation (PMID: 15671067). EPPK1 mutations have been identified in lung adenocarcinoma (PMID: 31747302), intrahepatic cholangiocarcinoma (PMID: 25526346), cancers of the cervix, colon, head and neck, pancreas (PMID: 29023197), and Ewing sarcoma (PMID: 25223734).
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
83481 8 8q24.3 NM_031308 Unknown
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