PPHLN1 Back

periphilin 1

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NCBI Description of PPHLN1
The protein encoded by this gene is one of the several proteins that become sequentially incorporated into the cornified cell envelope during the terminal differentiation of keratinocyte at the outer layers of epidermis. This protein interacts with periplakin, which is known as a precursor of the cornified cell envelope. The cellular localization pattern and insolubility of this protein suggest that it may play a role in epithelial differentiation and contribute to epidermal integrity and barrier formation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed.

Community Annotation of PPHLN1 Add / Edit PPHLN1: Annotations

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

PPHLN1 is highly significantly mutated in
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PPHLN1 is significantly mutated in
(none)
PPHLN1 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for PPHLN1