PPL Chromosome 16

Periplakin
2 variants 2 Health Risk

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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 —
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