PKP3
Description
The PKP3 (plakophilin 3) is a protein-coding gene located on chromosome 11.
Plakophilin-3 is a protein that in humans is encoded by the PKP3 gene.
== Function == 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 act in cellular desmosome-dependent adhesion and signaling pathways.
== Interactions == PKP3 has been shown to interact with:
DSC3, DSG1, DSG2 and DSG3.
May contribute to the formation of junctional plaques, structures involved in cell-cell adhesion.
PKP3 is also known as -.
Associated Diseases
- esophageal cancer
- urinary bladder cancer
- lymphopenia
- neutropenia
- endometrial cancer
- pachyonychia congenita
- hypotrichosis simplex
- uncombable hair syndrome
- erythrokeratodermia variabilis
- ringed hair disease
- pili bifurcati
