EPPK1

Chr 8AD

epiplakin 1

Also known as: EPIPL, EPIPL1

NCBI Gene: 83481 ENSG00000261150 UniProt: P58107 OMIM: 607553

Epiplakin is a cytoskeletal linker protein that connects to intermediate filaments and controls their reorganization in response to cellular stress, particularly in keratinocytes and other epithelial cells. Mutations cause palmoplantar keratoderma, epidermolytic, type 1, an autosomal dominant skin disorder characterized by thickening of the palms and soles with epidermolysis. The gene shows very low constraint against loss-of-function variants, suggesting tolerance to such mutations.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene belongs to the plakin family of proteins, which play a role in the organization of cytoskeletal architecture. This family member is composed of several highly homologous plakin repeats. It may function to maintain the integrity of keratin intermediate filament networks in epithelial cells. Studies of the orthologous mouse protein suggest that it accelerates keratinocyte migration during wound healing. [provided by RefSeq, Oct 2013]

OMIM ResearchGenerating clinical summary…