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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for PPHLN1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID51535
Official gene symbolPPHLN1
Full nameperiphilin 1
Aliases,HSPC206,HSPC232,MGC48786,
Gene summaryThe 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. [provided by RefSeq]
LocationChromosome: 12   Locus: 12q12
Gene position42719947 - 42842422  Map Viewer
Gene orientationplus
Gene size122476 bp
Gene sequence
OMIM ID608150