Gene: PPL

Alternate names for this Gene: -

Gene Summary: 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.

Gene is located in Chromosome: 16

Location in Chromosome : 16p13.3

Description of this Gene: periplakin

Type of Gene: protein-coding

rs9635542 in PPL gene and Autistic Disorder PMID 22843504 2012 Individual common variants exert weak effects on the risk for autism spectrum disorders.

rs147380181 in PPL gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1049205 in PPL gene and Body mass index PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs12921187 in PPL gene and Diastolic blood pressure PMID 28135244 2017 Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk.

rs1049212 in PPL gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2660243 in PPL gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs11861717 in PPL gene and Malignant Neoplasms PMID 29299148 2017 Cancer risk susceptibility loci in a Swedish population.

rs558074929 in PPL gene and Systolic Pressure PMID 30578418 2019 Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.