PPL Chromosome 16

Periplakin
2 variants 2 Health Risk

Upload your DNA to see your personal genotypes for variants in PPL.

What This Gene Does
The protein encoded by this gene is a component of desmosomes and of the epidermal cornified envelope in keratinocytes. The N-terminal domain of this protein interacts with the plasma membrane and its C-terminus interacts with intermediate filaments. Through its rod domain, this protein forms complexes with envoplakin. This protein may serve as a link between the cornified envelope and desmosomes as well as intermediate filaments. AKT1/PKB, a protein kinase mediating a variety of cell growth and survival signaling processes, is reported to interact with this protein, suggesting a possible role for this protein as a localization signal in AKT1-mediated signaling. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Plakins|Spectrin repeat containing"
Locus Type
gene with protein product
Location
16p13.3
Ensembl
ENSG00000118898
Key Variants
All Variants (2)
RSID Category Clinical Significance Conditions
RS140342271 Health Risk Conflicting classifications of pathogenicity
RS145318499 Health Risk Conflicting classifications of pathogenicity
Sign Up to Analyze Your DNA Log In