Catalyzes the regio and stereo-specific incorporation of a single molecule of dioxygen into free and esterified polyunsaturated fatty acids generating lipid hydroperoxides that can be further reduced to the corresponding hydroxy species (PubMed:9837935, PubMed:9618483, PubMed:21558561). In the skin, acts upstream of ALOXE3 on the lineolate moiety of esterified omega-hydroxyacyl-sphingosine (EOS) ceramides to produce an epoxy-ketone derivative, a crucial step in the conjugation of omega-hydroxyceramide to membrane proteins (PubMed:21558561). Therefore plays a crucial role in the synthesis of corneocytes lipid envelope and the establishment of the skin barrier to water loss (PubMed:21558561). May also play a role in the regulation of the expression of airway mucins (PubMed:22441738). {Experimental EvidencePubMed:21558561, Experimental EvidencePubMed:22441738, Experimental EvidencePubMed:9618483, Experimental EvidencePubMed:9837935}.
Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100]: A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non- bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. {Experimental EvidencePubMed:11773004, Experimental EvidencePubMed:15629692, Experimental EvidencePubMed:16116617, Experimental EvidencePubMed:19131948, Experimental EvidencePubMed:19890349}. Note=The disease is caused by variants affecting the gene represented in this entry.
G patch domain and ankyrin repeat-containing protein 1 (Ankyrin repeat domain-containing protein 59) (G patch domain-containing protein 10) (HLA-B-associated transcript 4) (Protein G5)
National and Kapodistrian University of Athens
Department of Biology
Biophysics & Bioinformatics Laboratory