Property Summary

NCBI Gene PubMed Count 3
Grant Count 17
R01 Count 4
Funding $2,221,416
PubMed Score 467.63
PubTator Score 337.37

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
lung carcinoma -1.200 0.000

Gene RIF (1)

PMID Text
21439540 describe a late-onset form of recessive ichthyosis in a large consanguineous pedigree with a 2 bp deletion in LIPN that segregated with the disease phenotype throughout the family

AA Sequence

MMWLLLTTTCLICGTLNAGGFLDLENEVNPEVWMNTSEIIIYNGYPSEEYEVTTEDGYILLVNRIPYGRT      1 - 70
HARSTGPRPVVYMQHALFADNAYWLENYANGSLGFLLADAGYDVWMGNSRGNTWSRRHKTLSETDEKFWA     71 - 140
FSFDEMAKYDLPGVIDFIVNKTGQEKLYFIGHSLGTTIGFVAFSTMPELAQRIKMNFALGPTISFKYPTG    141 - 210
IFTRFFLLPNSIIKAVFGTKGFFLEDKKTKIASTKICNNKILWLICSEFMSLWAGSNKKNMNQSRMDVYM    211 - 280
SHAPTGSSVHNILHIKQLYHSDEFRAYDWGNDADNMKHYNQSHPPIYDLTAMKVPTAIWAGGHDVLVTPQ    281 - 350
DVARILPQIKSLHYFKLLPDWNHFDFVWGLDAPQRMYSEIIALMKAYS                          351 - 398
//

Text Mined References (3)

PMID Year Title
21439540 2011 A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis.
17562024 2007 Large-scale identification of human genes implicated in epidermal barrier function.
15164054 2004 The DNA sequence and comparative analysis of human chromosome 10.