Genomes and Genes
Gene Symbol: NIPAL4
Description: NIPA like domain containing 4
Alias: ARCI6, ICHTHYIN, ICHYN, magnesium transporter NIPA4, NIPA-like protein 4, non-imprinted in Prader-Willi/Angelman syndrome region protein 4
- Alavi A, Shahshahani M, Klotzle B, Fan J, Ronaghi M, Elahi E. Manifestation of diffuse yellowish keratoderma on the palms and soles in autosomal recessive congenital ichthyosis patients may be indicative of mutations in NIPAL4. J Dermatol. 2012;39:375-81 pubmed publisher..Linkage to chromosome 5 and a mutation in NIPAL4 causing p.G297R were identified...
- Pavez Loriè E, Gånemo A, Borgers M, Wouters L, Blockhuys S, van de Plassche L, et al. Expression of retinoid-regulated genes in lamellar ichthyosis vs. healthy control epidermis: changes after oral treatment with liarozole. Acta Derm Venereol. 2009;89:12-20 pubmed publisherLamellar ichthyosis is a keratinization disorder caused by TGM1, Ichthyin and several other gene mutations...
- Akiyama M, Shimizu H. An update on molecular aspects of the non-syndromic ichthyoses. Exp Dermatol. 2008;17:373-82 pubmed publisher..molecules underlying ichthyosis subtypes include ABCA12, lipoxygenase-3, 12R-lipoxygenase, CYP4F2 homolog, ichthyin and steroid sulphatase and all these are thought to be related to the intercellular lipid layers...
- Akiyama M. Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: the underlying genetic defects and pathomechanisms. J Dermatol Sci. 2006;42:83-9 pubmed..The five genes are transglutaminase 1 gene (TGM1), ABCA12, two lipoxygenase genes, ALOXE3 and ALOX12B and ichthyin. One of these components, ABCA12, has recently been shown to be a keratinocyte lipid transporter associated with ..
- Wajid M, Kurban M, Shimomura Y, Christiano A. NIPAL4/ichthyin is expressed in the granular layer of human epidermis and mutated in two Pakistani families with autosomal recessive ichthyosis. Dermatology. 2010;220:8-14 pubmed publisher..having performed a linkage analysis, we analyzed the DNA of 2 consanguineous Pakistani families with ARCI for NIPAL4 mutations and performed in situ hybridization (ISH) for NIPAL4 mRNA in the epidermis...
- Dahlqvist J, Klar J, Hausser I, Anton Lamprecht I, Pigg M, Gedde Dahl T, et al. Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis. J Med Genet. 2007;44:615-20 pubmed..The region coincides with the ichthyin gene, previously reported as mutated in ARCI...