Property Summary

NCBI Gene PubMed Count 11
Grant Count 4
Funding $357,899.16
PubMed Score 100.63
PubTator Score 39.88

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
interstitial cystitis -2.700 0.000
psoriasis 1.900 0.000
inflammatory breast cancer -1.700 0.000

Synonym

Accession Q6NT55 Q8N8H4
Symbols LI3
ARCI5
INLNE

Gene

PANTHER Protein Class (2)

Gene RIF (3)

PMID Text
23871423 description of CYP4F22 mutations from a Japanese collodion baby with lamellar ichthyosis [case report]
22209317 Letter: CYP4F22 is highly expressed at the site and timing of onset of keratinization during skin development.
21540472 REVIEW: genetic analyses have identified a wide spectrum of mutations in the CYP4V2gene from patients suffering from Bietti's crystalline corneoretinal dystrophy, and mutations in theCYP4F22 gene have been linked to lamellar ichthyosis

AA Sequence

MLPITDRLLHLLGLEKTAFRIYAVSTLLLFLLFFLFRLLLRFLRLCRSFYITCRRLRCFPQPPRRNWLLG      1 - 70
HLGMYLPNEAGLQDEKKVLDNMHHVLLVWMGPVLPLLVLVHPDYIKPLLGASAAIAPKDDLFYGFLKPWL     71 - 140
GDGLLLSKGDKWSRHRRLLTPAFHFDILKPYMKIFNQSADIMHAKWRHLAEGSAVSLDMFEHISLMTLDS    141 - 210
LQKCVFSYNSNCQEKMSDYISAIIELSALSVRRQYRLHHYLDFIYYRSADGRRFRQACDMVHHFTTEVIQ    211 - 280
ERRRALRQQGAEAWLKAKQGKTLDFIDVLLLARDEDGKELSDEDIRAEADTFMFEGHDTTSSGISWMLFN    281 - 350
LAKYPEYQEKCREEIQEVMKGRELEELEWDDLTQLPFTTMCIKESLRQYPPVTLVSRQCTEDIKLPDGRI    351 - 420
IPKGIICLVSIYGTHHNPTVWPDSKVYNPYRFDPDNPQQRSPLAYVPFSAGPRNCIGQSFAMAELRVVVA    421 - 490
LTLLRFRLSVDRTRKVRRKPELILRTENGLWLKVEPLPPRA                                 491 - 531
//

Text Mined References (12)

PMID Year Title
23871423 2013 Lamellar ichthyosis in a collodion baby caused by CYP4F22 mutations in a non-consanguineous family outside the Mediterranean.
22209317 2012 CYP4F22 is highly expressed at the site and timing of onset of keratinization during skin development.
21540472 2011 Finding homes for orphan cytochrome P450s: CYP4V2 and CYP4F22 in disease states.
18245815 2008 Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolism.
16436457 2006 Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15128046 2004 Comparison of cytochrome P450 (CYP) genes from the mouse and human genomes, including nomenclature recommendations for genes, pseudogenes and alternative-splice variants.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
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