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Aliases for ALOXE3 Gene

Aliases for ALOXE3 Gene

  • Arachidonate Lipoxygenase 3 2 3 5
  • Hydroperoxy Icosatetraenoate Dehydratase 3 4
  • Epidermis-Type Lipoxygenase 3 3 4
  • Epidermal LOX-3 3 4
  • E-LOX-3 3 4
  • ELOX-3 3 4
  • Hydroperoxide Isomerase ALOXE3 3
  • Epidermal Lipoxygenase 3
  • EC 4.2.1.152 4
  • EC 5.4.4.7 4
  • ARCI3 3
  • E-LOX 3
  • ELOX3 3

External Ids for ALOXE3 Gene

Previous GeneCards Identifiers for ALOXE3 Gene

  • GC17P008434
  • GC17M009087
  • GC17M007941
  • GC17M008199
  • GC17M007939
  • GC17M007999
  • GC17M007894
  • GC17M008096
  • GC17M008101
  • GC17M008106
  • GC17M008316
  • GC17M008362

Summaries for ALOXE3 Gene

Entrez Gene Summary for ALOXE3 Gene

  • This gene is a member of the lipoxygenase family, which are catabolized by arachidonic acid-derived compounds. The encoded enzyme is a hydroperoxide isomerase that synthesizes a unique type of epoxy alcohol (8R-hydroxy-11R,12R-epoxyeicosa-5Z,9E,14Z-trienoic acid) from 12R-hydroperoxyeicosatetraenoic acid (12R-HPETE). This epoxy alcohol can activate the the nuclear receptor peroxisome proliferator-activated receptor alpha (PPARalpha), which is implicated in epidermal differentiation. Loss of function of the enzyme encoded by this gene results in ichthyosis, implicating the function of this gene in the differentiation of human skin. This gene is part of a cluster of lipoxygenase genes on 17p13.1. Mutations in this gene result in nonbullous congenital ichthyosiform erythroderma (NCIE). Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]

GeneCards Summary for ALOXE3 Gene

ALOXE3 (Arachidonate Lipoxygenase 3) is a Protein Coding gene. Diseases associated with ALOXE3 include Ichthyosis, Congenital, Autosomal Recessive 3 and Ichthyosis, Congenital, Autosomal Recessive 2. Among its related pathways are Prostaglandin 2 biosynthesis and metabolism FM. GO annotations related to this gene include iron ion binding and oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen. An important paralog of this gene is ALOX12B.

UniProtKB/Swiss-Prot for ALOXE3 Gene

  • Non-heme iron-containing lipoxygenase which is atypical in that it displays a prominent hydroperoxide isomerase activity and a reduced dioxygenase activity compared to other lipoxygenases. The hydroperoxide isomerase activity catalyzes the isomerization of hydroperoxides, derived from arachidonic and linoleic acid by ALOX12B, into hepoxilin-type epoxyalcohols. The dioxygenase activity requires a step of activation of the enzyme by molecular oxygen. In presence of oxygen, oxygenates polyunsaturated fatty acids, including arachidonic acid, to produce fatty acid hydroperoxides. In the skin, acts downstream of ALOX12B on the linoleate 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. Therefore plays a crucial role in the synthesis of corneocytes lipid envelope and the establishment of the skin barrier to water loss. In parallel, it may have a signaling function in barrier formation through the production of hepoxilins metabolites. Plays also a role in adipocyte differentiation through hepoxilin A3 and hepoxilin B3 production which in turn activate PPARG. Through the production of hepoxilins in the spinal cord, it may regulate inflammatory tactile allodynia.

Gene Wiki entry for ALOXE3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ALOXE3 Gene

Genomics for ALOXE3 Gene

Regulatory Elements for ALOXE3 Gene

Enhancers for ALOXE3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17G008105 0.7 ENCODE 33.4 +12.6 12633 1.1 KLF1 L3MBTL2 NFRKB ETV1 UBTF ZEB2 CEBPG ZNF592 ZFHX2 SMARCA4 ALOXE3 LOC107985075 ALOX15B TMEM107 SNORD118 CNTROB TRAPPC1 KCNAB3 PFAS BORCS6
GH17G008109 1.1 Ensembl ENCODE 17.6 +9.1 9143 1.5 HDGF ATF1 RB1 NFIB ZNF2 RAD21 SCRT2 ZNF143 GATAD2B REST ALOXE3 ALOX12B LOC107985075 ALOX15B SNORD118 TMEM107 CNTROB TRAPPC1 KCNAB3 PFAS
GH17G008117 1.4 ENCODE dbSUPER 5.5 -2.2 -2221 7.7 AGO1 FEZF1 YY1 ZNF143 ZNF263 SP3 TBX21 ZFP41 SSRP1 ZNF610 NEURL4 NLGN2 VAMP2 HES7 CTC1 DVL2 ATP1B2 PFAS ENSG00000265749 SNORD10
GH17G008172 1.5 ENCODE dbSUPER 4.9 -55.9 -55920 5.2 MLX CREB3L1 AGO1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 DVL2 PFAS SNORD10 CTC1 SNORA48 PER1 ENSG00000265749 CNTROB LOC100996842 RPL26
GH17G008093 1 ENCODE 0.3 +25.0 25010 0.2 ZNF493 ZFP64 ZNF2 ZNF121 ZNF302 ZNF143 KLF7 ZNF202 SP3 REST DVL2 PFAS CTC1 SNORD10 RPL26 ENSG00000265749 SNORA48 LOC100996842 NLGN2 CNTROB
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ALOXE3 on UCSC Golden Path with GeneCards custom track

Promoters for ALOXE3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000282320 -853 2601 MLX AGO1 FEZF1 YY1 ZNF143 ZNF263 SP3 TBX21 ZFP41 SSRP1

Genomic Location for ALOXE3 Gene

Chromosome:
17
Start:
8,095,900 bp from pter
End:
8,119,047 bp from pter
Size:
23,148 bases
Orientation:
Minus strand

Genomic View for ALOXE3 Gene

Genes around ALOXE3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ALOXE3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ALOXE3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALOXE3 Gene

Proteins for ALOXE3 Gene

  • Protein details for ALOXE3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BYJ1-LOXE3_HUMAN
    Recommended name:
    Hydroperoxide isomerase ALOXE3
    Protein Accession:
    Q9BYJ1
    Secondary Accessions:
    • B2R981
    • B7Z3W0
    • Q3ZB74
    • Q9H4F2
    • Q9HC22

    Protein attributes for ALOXE3 Gene

    Size:
    711 amino acids
    Molecular mass:
    80543 Da
    Cofactor:
    Name=Fe cation; Xref=ChEBI:CHEBI:24875;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ALOXE3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ALOXE3 Gene

Post-translational modifications for ALOXE3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ALOXE3 Gene

Domains & Families for ALOXE3 Gene

Gene Families for ALOXE3 Gene

Suggested Antigen Peptide Sequences for ALOXE3 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BYJ1

UniProtKB/Swiss-Prot:

LOXE3_HUMAN :
  • Belongs to the lipoxygenase family.
Family:
  • Belongs to the lipoxygenase family.
genes like me logo Genes that share domains with ALOXE3: view

Function for ALOXE3 Gene

Molecular function for ALOXE3 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=46 uM for (12R)-HPETE {ECO:0000269 PubMed:12881489, ECO:0000269 PubMed:17045234, ECO:0000269 PubMed:20921226}; KM=28 uM for (12S)-HPETE {ECO:0000269 PubMed:12881489, ECO:0000269 PubMed:17045234, ECO:0000269 PubMed:20921226}; KM=32 uM for (15S)-HPETE {ECO:0000269 PubMed:12881489, ECO:0000269 PubMed:17045234, ECO:0000269 PubMed:20921226}; KM=50 uM for synthetic fatty acid 9E,11Z,14Z-20:3omega6 (at pH 7.5) {ECO:0000269 PubMed:12881489, ECO:0000269 PubMed:17045234, ECO:0000269 PubMed:20921226}; Vmax=3.256 umol/min/mg enzyme for (12R)-HPETE (at pH 7.5) {ECO:0000269 PubMed:12881489, ECO:0000269 PubMed:17045234, ECO:0000269 PubMed:20921226}; Vmax=0.858 umol/min/mg enzyme for (12S)-HPETE (at pH 7.5) {ECO:0000269 PubMed:12881489, ECO:0000269 PubMed:17045234, ECO:0000269 PubMed:20921226}; Vmax=0.484 umol/min/mg enzyme for (15S)-HPETE (at pH 7.5) {ECO:0000269 PubMed:12881489, ECO:0000269 PubMed:17045234, ECO:0000269 PubMed:20921226}; Note=Has a 5 to 10 fold higher activity toward (12R)-HPETE (hydroperoxyeicosatetraenoic acid) compared to (12S)-HPETE and (15S)-HPETE. From (12R)-HPETE produces a stereoisomer of hepoxilin A3. More active on hydroperoxides with an R configuration than an S one.;
UniProtKB/Swiss-Prot CatalyticActivity:
A hydroperoxy icosatetraenoate = a hydroxy epoxy icosatrienoate.
UniProtKB/Swiss-Prot CatalyticActivity:
A hydroperoxy icosatetraenoate = an oxoicosatetraenoate + H(2)O.
UniProtKB/Swiss-Prot Function:
Non-heme iron-containing lipoxygenase which is atypical in that it displays a prominent hydroperoxide isomerase activity and a reduced dioxygenase activity compared to other lipoxygenases. The hydroperoxide isomerase activity catalyzes the isomerization of hydroperoxides, derived from arachidonic and linoleic acid by ALOX12B, into hepoxilin-type epoxyalcohols. The dioxygenase activity requires a step of activation of the enzyme by molecular oxygen. In presence of oxygen, oxygenates polyunsaturated fatty acids, including arachidonic acid, to produce fatty acid hydroperoxides. In the skin, acts downstream of ALOX12B on the linoleate 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. Therefore plays a crucial role in the synthesis of corneocytes lipid envelope and the establishment of the skin barrier to water loss. In parallel, it may have a signaling function in barrier formation through the production of hepoxilins metabolites. Plays also a role in adipocyte differentiation through hepoxilin A3 and hepoxilin B3 production which in turn activate PPARG. Through the production of hepoxilins in the spinal cord, it may regulate inflammatory tactile allodynia.

Enzyme Numbers (IUBMB) for ALOXE3 Gene

Gene Ontology (GO) - Molecular Function for ALOXE3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005506 iron ion binding IEA --
GO:0005515 protein binding IPI 22622417
GO:0016491 oxidoreductase activity IEA --
GO:0016702 NOT oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen IDA 12881489
GO:0016829 lyase activity IEA --
genes like me logo Genes that share ontologies with ALOXE3: view
genes like me logo Genes that share phenotypes with ALOXE3: view

Human Phenotype Ontology for ALOXE3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ALOXE3 Gene

MGI Knock Outs for ALOXE3:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for miRNA , Transcription Factor Targets and HOMER Transcription for ALOXE3 Gene

Localization for ALOXE3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALOXE3 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ALOXE3 gene
Compartment Confidence
mitochondrion 3
cytosol 3
nucleus 1

Gene Ontology (GO) - Cellular Components for ALOXE3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with ALOXE3: view

Pathways & Interactions for ALOXE3 Gene

genes like me logo Genes that share pathways with ALOXE3: view

Pathways by source for ALOXE3 Gene

1 GeneGo (Thomson Reuters) pathway for ALOXE3 Gene

UniProtKB/Swiss-Prot Q9BYJ1-LOXE3_HUMAN

  • Pathway: Lipid metabolism; hydroperoxy eicosatetraenoic acid biosynthesis.
  • Pathway: Lipid metabolism; sphingolipid metabolism.

Gene Ontology (GO) - Biological Process for ALOXE3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IEA --
GO:0006665 sphingolipid metabolic process IEA,IDA 21558561
GO:0019233 sensory perception of pain IEA,ISS --
GO:0019369 arachidonic acid metabolic process IDA 12881489
genes like me logo Genes that share ontologies with ALOXE3: view

No data available for SIGNOR curated interactions for ALOXE3 Gene

Drugs & Compounds for ALOXE3 Gene

(1) Drugs for ALOXE3 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for ALOXE3 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
genes like me logo Genes that share compounds with ALOXE3: view

Transcripts for ALOXE3 Gene

mRNA/cDNA for ALOXE3 Gene

Unigene Clusters for ALOXE3 Gene

Arachidonate lipoxygenase 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ALOXE3 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16
SP1:
SP2:

Relevant External Links for ALOXE3 Gene

GeneLoc Exon Structure for
ALOXE3
ECgene alternative splicing isoforms for
ALOXE3

Expression for ALOXE3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ALOXE3 Gene

mRNA differential expression in normal tissues according to GTEx for ALOXE3 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x26.0) and Skin - Not Sun Exposed (Suprapubic) (x18.8).

Protein differential expression in normal tissues from HIPED for ALOXE3 Gene

This gene is overexpressed in Plasma (67.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ALOXE3 Gene



Protein tissue co-expression partners for ALOXE3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ALOXE3 Gene:

ALOXE3

SOURCE GeneReport for Unigene cluster for ALOXE3 Gene:

Hs.232770

mRNA Expression by UniProt/SwissProt for ALOXE3 Gene:

Q9BYJ1-LOXE3_HUMAN
Tissue specificity: Predominantly expressed in skin.

Evidence on tissue expression from TISSUES for ALOXE3 Gene

  • Nervous system(4.1)
  • Skin(3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ALOXE3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • lip
  • outer ear
Pelvis:
  • penis
  • vulva
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • nail
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • skin
  • spinal cord
  • sweat gland
  • white blood cell
genes like me logo Genes that share expression patterns with ALOXE3: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for ALOXE3 Gene

Orthologs for ALOXE3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ALOXE3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ALOXE3 34 35
  • 95.41 (n)
cow
(Bos Taurus)
Mammalia ALOXE3 34 35
  • 89.03 (n)
dog
(Canis familiaris)
Mammalia ALOXE3 34 35
  • 88.75 (n)
mouse
(Mus musculus)
Mammalia Aloxe3 34 16 35
  • 86.36 (n)
rat
(Rattus norvegicus)
Mammalia Aloxe3 34
  • 85.75 (n)
oppossum
(Monodelphis domestica)
Mammalia ALOXE3 35
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 49 (a)
ManyToMany
chicken
(Gallus gallus)
Aves -- 35
  • 41 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 55 (a)
ManyToMany
-- 35
  • 54 (a)
ManyToMany
-- 35
  • 51 (a)
ManyToMany
-- 35
  • 51 (a)
ManyToMany
-- 35
  • 49 (a)
ManyToMany
-- 35
  • 48 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100494252 34
  • 57.81 (n)
zebrafish
(Danio rerio)
Actinopterygii si:dkey-17e16.9 34
  • 52.09 (n)
ALOXE3 35
  • 39 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 35 (a)
ManyToMany
CSA.6148 35
  • 30 (a)
ManyToMany
-- 35
  • 28 (a)
ManyToMany
-- 35
  • 28 (a)
ManyToMany
Species where no ortholog for ALOXE3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ALOXE3 Gene

ENSEMBL:
Gene Tree for ALOXE3 (if available)
TreeFam:
Gene Tree for ALOXE3 (if available)

Paralogs for ALOXE3 Gene

Paralogs for ALOXE3 Gene

(6) SIMAP similar genes for ALOXE3 Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for ALOXE3 Gene

genes like me logo Genes that share paralogs with ALOXE3: view

Variants for ALOXE3 Gene

Sequence variations from dbSNP and Humsavar for ALOXE3 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs121434232 Pathogenic, Ichthyosis, congenital, autosomal recessive 3 (ARCI3) [MIM:606545] 8,109,238(-) GCGGC(A/G/T)TCCTG nc-transcript-variant, reference, missense
rs121434234 Pathogenic, Ichthyosis, congenital, autosomal recessive 3 (ARCI3) [MIM:606545] 8,110,211(-) GGGTG(A/C)GCAAC nc-transcript-variant, reference, missense
rs121434235 Uncertain significance, Ichthyosis, congenital, autosomal recessive 3 (ARCI3) [MIM:606545] 8,112,168(-) GGCTG(A/C/T)TGGAT nc-transcript-variant, reference, synonymous-codon, missense
rs147149459 Pathogenic, Ichthyosis, congenital, autosomal recessive 3 (ARCI3) [MIM:606545] 8,103,390(+) CTTCA(A/G)GGAGG nc-transcript-variant, downstream-variant-500B, reference, missense
rs786205120 Pathogenic, Ichthyosis, congenital, autosomal recessive 3 (ARCI3) [MIM:606545] 8,111,474(-) GAATG(G/T)TGTCA nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for ALOXE3 Gene

Variant ID Type Subtype PubMed ID
esv22594 CNV gain 19812545
esv2715609 CNV deletion 23290073
esv3554095 CNV deletion 23714750
nsv112429 CNV insertion 16902084
nsv457661 CNV loss 19166990
nsv514860 CNV gain 21397061
nsv518133 CNV loss 19592680
nsv523885 CNV loss 19592680
nsv574334 CNV loss 21841781
nsv574335 CNV loss 21841781
nsv833352 CNV loss 17160897

Variation tolerance for ALOXE3 Gene

Residual Variation Intolerance Score: 11.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.07; 75.27% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ALOXE3 Gene

Human Gene Mutation Database (HGMD)
ALOXE3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ALOXE3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALOXE3 Gene

Disorders for ALOXE3 Gene

MalaCards: The human disease database

(11) MalaCards diseases for ALOXE3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

LOXE3_HUMAN
  • Ichthyosis, congenital, autosomal recessive 3 (ARCI3) [MIM:606545]: 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 mutations affecting the gene represented in this entry.

Relevant External Links for ALOXE3

Genetic Association Database (GAD)
ALOXE3
Human Genome Epidemiology (HuGE) Navigator
ALOXE3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ALOXE3
genes like me logo Genes that share disorders with ALOXE3: view

No data available for Genatlas for ALOXE3 Gene

Publications for ALOXE3 Gene

  1. Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B. (PMID: 19131948) Eckl K.M. … Hennies H.C. (J. Invest. Dermatol. 2009) 3 4 22 46 64
  2. Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients. (PMID: 19890349) Vahlquist A. … Fischer J. (J. Invest. Dermatol. 2010) 3 4 22 64
  3. Human and mouse eLOX3 have distinct substrate specificities: implications for their linkage with lipoxygenases in skin. (PMID: 17045234) Yu Z. … Brash A.R. (Arch. Biochem. Biophys. 2006) 3 4 22 64
  4. Mutations associated with a congenital form of ichthyosis (NCIE) inactivate the epidermal lipoxygenases 12R-LOX and eLOX3. (PMID: 15629692) Yu Z. … Brash A.R. (Biochim. Biophys. Acta 2005) 3 4 22 64
  5. Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1. (PMID: 11773004) Jobard F. … Fischer J. (Hum. Mol. Genet. 2002) 3 4 22 64

Products for ALOXE3 Gene

Sources for ALOXE3 Gene

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