Gene: LOC105371064

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

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

rs4038782 in LOC105371064;PPL gene and Malignant Neoplasms PMID 29299148 2017 Cancer risk susceptibility loci in a Swedish population.

rs13335236 in LOC105371064;PPL gene and Velopharyngeal dysfunction PMID 29855589 2018 GWAS reveals loci associated with velopharyngeal dysfunction.