Property Summary

NCBI Gene PubMed Count 16
PubMed Score 12.80
PubTator Score 13.09

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (6)

Disease log2 FC p
urothelial carcinoma -1.300 0.048
osteosarcoma 1.124 0.000
medulloblastoma, large-cell 1.300 0.001
interstitial cystitis -2.200 0.000
psoriasis 1.300 0.000
ovarian cancer 1.300 0.000

Synonym

Accession Q0D2K0 A8S6F1 A8S6F5 A8S6F8 B4DLF3 Q0D2J8 Q0D2J9
Symbols ARCI6
ICHYN
ICHTHYIN

Gene

Gene RIF (11)

PMID Text
23290633 FATP4, ichthyin and TGM1 interact in lipid processing essential for maintaining the epidermal barrier function
22622417 Autosomal recessive congenital ichthyosis patients with NIPAL4 mutations and abnormal ichthyin expression showed increased 12R-LOX and eLOX-3 staining and a colocalization signal of these lipoxygenases that was three times the normal intensity.
22258272 combined findings indicate that ichthyin is associated with keratins and desmosomes in epidermis and is involved in lipid metabolism, possibly through processing of lamellar bodies
22098531 diffuse yellowish keratoderma may be indicative of mutations in NIPAL4, providing an easily assessable genotype-phenotype correlation
20438785 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20406964 Observational study of gene-disease association. (HuGE Navigator)
20016120 A recurrent missense mutation, p.A176D, was identified in individuals with autosomal recessive ichthyosis.
19423540 Observational study of gene-disease association. (HuGE Navigator)
19197536 The results suggest that liarozole exerts a therapeutic effect in lamellar ichthyosis by mildly affecting the expression of retinoid- regulated genes in epidermis.
17557927 mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis
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AA Sequence

MPGDSSPGTLPLWDASLSPPLGPDPGGFSRASHAGDKSRPPAPELGSPGAVRPRVGSCAPGPMELRVSNT      1 - 70
SCENGSLLHLYCSSQEVLCQIVNDLSPEVPSNATFHSWQERIRQNYGFYIGLGLAFLSSFLIGSSVILKK     71 - 140
KGLLRLVATGATRAVDGGFGYLKDAMWWAGFLTMAAGEVANFGAYAFAPATVVTPLGALSVLISAILSSY    141 - 210
FLRESLNLLGKLGCVICVAGSTVMVIHAPEEEKVTTIMEMASKMKDTGFIVFAVLLLVSCLILIFVIAPR    211 - 280
YGQRNILIYIIICSVIGAFSVAAVKGLGITIKNFFQGLPVVRHPLPYILSLILALSLSTQVNFLNRALDI    281 - 350
FNTSLVFPIYYVFFTTVVVTSSIILFKEWYSMSAVDIAGTLSGFVTIILGVFMLHAFKDLDISCASLPHM    351 - 420
HKNPPPSPAPEPTVIRLEDKNVLVDNIELASTSSPEEKPKVFIIHS                            421 - 466
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Text Mined References (19)

PMID Year Title
26456858 2016 Novel mutation in NIPAL4 in a Romanian family with autosomal recessive congenital ichthyosis.
23290633 2013 Interactions between FATP4 and ichthyin in epidermal lipid processing may provide clues to the pathogenesis of autosomal recessive congenital ichthyosis.
22622417 2012 The expression of epidermal lipoxygenases and transglutaminase-1 is perturbed by NIPAL4 mutations: indications of a common metabolic pathway essential for skin barrier homeostasis.
22258272 2012 Ichthyin/NIPAL4 localizes to keratins and desmosomes in epidermis and Ichthyin mutations affect epidermal lipid metabolism.
22098531 2012 Manifestation of diffuse yellowish keratoderma on the palms and soles in autosomal recessive congenital ichthyosis patients may be indicative of mutations in NIPAL4.
20438785 2010 Polymorphisms in innate immunity genes and risk of childhood leukemia.
20406964 2010 Risk of meningioma and common variation in genes related to innate immunity.
20016120 2010 NIPAL4/ichthyin is expressed in the granular layer of human epidermis and mutated in two Pakistani families with autosomal recessive ichthyosis.
19423540 2009 Common variation in genes related to innate immunity and risk of adult glioma.
19197536 2009 Expression of retinoid-regulated genes in lamellar ichthyosis vs. healthy control epidermis: changes after oral treatment with liarozole.
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