O75342 Arachidonate ALOX12B 9606 None SL-0198 Cytoplasm {ECO:0000255|PROSITE-ProRule:PRU00726}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:9837935}. UNIPROT O75342 Pfam PF00305 Pfam PF01477 PROSITE PS00711 PROSITE PS00081 PROSITE PS51393 PROSITE PS50095 OMIM 242100 OMIM 603741 DisGeNET 242 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). {ECO:0000269|PubMed:21558561, ECO:0000269|PubMed:22441738, ECO:0000269|PubMed:9618483, ECO:0000269|PubMed: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. {ECO:0000269|PubMed:11773004, ECO:0000269|PubMed:15629692, ECO:0000269|PubMed:16116617, ECO:0000269|PubMed:19131948, ECO:0000269|PubMed:19890349}. Note=The disease is caused by variants affecting the gene represented in this entry. Q9BYJ1 EBI-6925923 0.47 P22735 EBI-6926188 0.27 P19838 EBI-11322719 0.35 O43309 EBI-21572679 0.35 O94842 EBI-21572856 0.35 P01160 EBI-21572983 0.35 P02794 EBI-21573202 0.35 Q96IK5 EBI-21574693 0.35 Q9NU19 EBI-21575852 0.35 Q15915 EBI-21696712 0.35 Q8IW40 EBI-21747275 0.35 Q96ER9 EBI-21756041 0.35 Q14943 EBI-21772679 0.35 Q2M243 EBI-21790384 0.35 Q9H3H5 EBI-21790524 0.35 Q7L190 EBI-21790421 0.35 O95872 EBI-21790341 0.35 O43918 EBI-21790262 0.35 Q5S007 EBI-21360986 0.35 GO:0005829 GO:0043231 GO:0048471 GO:0106237 GO:0004052 GO:0047677 GO:0005506 GO:0016853 GO:1990136 GO:0016829 GO:0016702 GO:0019369 GO:0046513 GO:0061436 GO:0051122 GO:0043651 GO:0034440 GO:0019372 GO:0010628 GO:0043410 GO:0070257 GO:0006497 GO:0006665 Unknown UniProt Sequence Analysis MATYKVRVATGTDLLSGTRDSISLTIVGTQGESHKQLLNHFGRDFATGAVGQYTVQCPQDLGELIIIRLHKERYAFFPKDPWYCNYVQICAPNGRIYHFPAYQWMDGYETLALREATGKTTADDSLPVLLEHRKEEIRAKQDFYHWRVFLPGLPSYVHIPSYRPPVRRHRNPNRPEWNGYIPGFPILINFKATKFLNLNLRYSFLKTASFFVRLGPMALAFKVRGLLDCKHSWKRLKDIRKIFPGKKSVVSEYVAEHWAEDTFFGYQYLNGVNPGLIRRCTRIPDKFPVTDDMVAPFLGEGTCLQAELEKGNIYLADYRIMEGIPTVELSGRKQHHCAPLCLLHFGPEGKMMPIAIQLSQTPGPDCPIFLPSDSEWDWLLAKTWVRYAEFYSHEAIAHLLETHLIAEAFCLALLRNLPMCHPLYKLLIPHTRYTVQINSIGRAVLLNEGGLSAKGMSLGVEGFAGVMVRALSELTYDSLYLPNDFVERGVQDLPGYYYRDDSLAVWNALEKYVTEIITYYYPSDAAVEGDPELQSWVQEIFKECLLGRESSGFPRCLRTVPELIRYVTIVIYTCSAKHAAVNTGQMEFTAWMPNFPASMRNPPIQTKGLTTLETFMDTLPDVKTTCITLLVLWTLSREPDDRRPLGHFPDIHFVEEAPRRSIEAFRQRLNQISHDIRQRNKCLPIPYYYLDPVLIENSISI 701