| Interacting proteins: Q9BYJ1 and O75342 |
Pubmed |
SVM Score :0.0 |
| NA |
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| Interacting proteins: Q9BYJ1 and O75342 |
Pubmed |
SVM Score :0.0 |
| NA |
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| Interacting proteins: Q9BYJ1 and O75342 |
Pubmed |
SVM Score :0.0 |
| NA |
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| Interacting proteins: Q9BYJ1 and O75342 |
Pubmed |
SVM Score :0.0 |
| NA |
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| Interacting proteins: Q9BYJ1 and O75342 |
Pubmed |
SVM Score :0.0 |
| NA |
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| Interacting proteins: Q9BYJ1 and O75342 |
Pubmed |
SVM Score :0.0 |
| NA |
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| Interacting proteins: Q9BYJ1 and O75342 |
Pubmed |
SVM Score :0.0 |
| NA |
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| Interacting proteins: Q9BYJ1 and O75342 |
Pubmed |
SVM Score :0.0 |
| By using reverse transcription polymerase chain reaction technology ( RT PCR ) and Northern blot analysis , the tissue specific mRNA expression patterns of seven mouse lipoxygenases ( LOX ) including 5S , 8S , three isoforms of 12S , 12R LOX , and a LOX of an as of yet unknown specificity , epidermis type LOX 3 ( e LOX 3 ) were investigated in NMRI mice . ^^^ The expression of the individual LOX in mouse epidermis was found to depend on the state of terminal differentiation of the keratinocytes . mRNA of epidermis type 12S LOX ( e12S LOX ) was detected in all layers of neonatal and adult NMRI mouse skin , whereas expression of p12S LOX , 12R LOX , and e LOX 3 was restricted to suprabasal epidermal layers of neonatal and adult mice . 8S LOX mRNA showed a body site dependent expression in that it was detected in stratifying epithelia of footsole and forestomach but not in back skin epidermis . ^^^ |
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| Interacting proteins: Q9BYJ1 and O75342 |
Pubmed |
SVM Score :0.0 |
| The gene encoding e LOX 3 , ALOXE 3 , was found to be part of a gene cluster of approximately 100 kb on human chromosome 17p13 . 1 containing in addition the 12R LOX gene , ALOX12B , the 15 LOX 2 gene , ALOX15B , and a novel 15 LOX pseudogene , ALOX15P . ^^^ ALOXE 3 and ALOX12B are arranged in a head to tail fashion separated by 8 . 5 kb . ^^^ RT PCR analysis demonstrated a predominant expression of ALOXE 3 , ALOX12B , and ALOX15B in skin . . ^^^ |
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| Interacting proteins: Q9BYJ1 and O75342 |
Pubmed |
SVM Score :0.0 |
| Lipoxygenase 3 ( ALOXE 3 ) and 12 ( R ) lipoxygenase ( ALOX12B ) are mutated in non bullous congenital ichthyosiform erythroderma ( NCIE ) linked to chromosome 17p13 . 1 . ^^^ We report the identification of mutations in lipoxygenase 3 ( ALOXE 3 ) and 12 ( R ) lipoxygenase ( ALOX12B ) genes in non bullous congenital ichthyosiform erythroderma ( NCIE ) linked to chromosome 17 . ^^^ Two point mutations and one deletion were found in ALOXE 3 and three point mutations were found in ALOX12B in these consanguineous families from the Mediterranean basin . ^^^ ALOXE 3 and ALOX12B are two genes which are physically linked and functionally related . ^^^ |
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| Interacting proteins: Q9BYJ1 and O75342 |
Pubmed |
SVM Score :0.0 |
| Mutations in any of the three known causative genes , TGM 1 , ALOXE 3 or ALOX12B , can lead either to NBCIE or LI . ^^^ |
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| Interacting proteins: Q9BYJ1 and O75342 |
Pubmed |
SVM Score :0.0 |
| Fischer , Lipoxygenase 3 ( ALOXE 3 ) and 12 ( R ) lipoxygenase ( ALOX12B ) are mutated in non bullous congenital ichthyosiform erythroderma ( NCIE ) linked to chromosome 17p13 . 1 , Hum . ^^^ |
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| Interacting proteins: Q9BYJ1 and O75342 |
Pubmed |
SVM Score :0.0 |
| The gene products of ALOX12B and ALOXE 3 , the epidermal lipoxygenases 12R LOX and eLOX 3 , respectively , are preferentially synthesized in the skin . ^^^ Mutations in ALOXE 3 and ALOX12B on chromosome 17p13 , which code for two different epidermal lipoxygenases , were recently found in patients with ichthyosiform erythroderma from Turkey , France , and North Africa . ^^^ Here we describe molecular and clinical findings in 17 families with ARCI originating from Central Europe , Turkey , and the Indian subcontinent , with mutations in ALOXE 3 or ALOX12B . ^^^ We identified 11 novel point mutations in ALOX12B ( one nonsense mutation and 10 missense mutations ) and four different inactivating mutations in ALOXE 3 . ^^^ The characterization of disease causing mutations in ALOXE 3 and ALOX12B and the resulting ARCI phenotypes did not result in clear diagnostic criteria ; however , we found a first correlation between the genetic findings and the clinical presentation of ichthyosis . . ^^^ |
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| Interacting proteins: Q9BYJ1 and O75342 |
Pubmed |
SVM Score :0.0 |
| Mutations in genes encoding transglutaminase 1 ( TGM 1 ) , the ABCA 12 transporter ( ABCA 12 ) , ichthyin , lipoxygenase 3 ( ALOXE 3 ) , and 12 ( R ) lipoxygenase ( ALOX12B ) have been shown to underlie both NBCIE and LI . . ^^^ |
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| Interacting proteins: Q9BYJ1 and O75342 |
Pubmed |
SVM Score :0.0 |
| The five genes are transglutaminase 1 gene ( TGM 1 ) , ABCA 12 , two lipoxygenase genes , ALOXE 3 and ALOX12B and ichthyin . ^^^ |
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| Interacting proteins: Q9BYJ1 and O75342 |
Pubmed |
SVM Score :0.0 |
| Surprisingly , genetic evidence has linked mutations in eLOX 3 or a colocalizing enzyme , 12R LOX , to disruption of the normal permeability barrier of the skin [ Jobard , F . , Lefvre , C . , Karaduman , A . , Blanchet Bardon , C . , Emre , S . , Weissenbach , J . , Ozgc , M . , Lathrop , M . , Prud ' homme , J . ^^^ Herein we identify a logical link of the biochemistry to the genetics . eLOX 3 functions as a hydroperoxide isomerase ( epoxyalcohol synthase ) by using the product of 12R LOX as the preferred substrate . 12R Hydroperoxyeicosatetraenoic acid ( 12R HPETE ) is converted to 8R hydroxy 11R , 12R epoxyeicosa 5Z , 9E , 14Z trienoic acid , one of the isomers of hepoxilin A 3 , and to 12 ketoeicosatetraenoic acid in a 2 : 1 ratio . ^^^ Our results provide strong biochemical evidence for a functional linkage of 12R LOX and eLOX 3 and clues into skin biochemistry and the etiology of ichthyosiform diseases in humans . . ^^^ |
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