ALOX12B (arachidonate 12-lipoxygenase, 12R type)

2010-02-01  

Identity

HGNC
LOCATION
17p13.1
LOCUSID
ALIAS
12R-LOX,ARCI2

Other Information

Locus ID:

NCBI: 242
MIM: 603741
HGNC: 430
Ensembl: ENSG00000179477

Variants:

dbSNP: 242
ClinVar: 242
TCGA: ENSG00000179477
COSMIC: ALOX12B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000179477ENST00000647874O75342
ENSG00000179477ENST00000649809A0A3B3IRK2

Expression (GTEx)

0
50
100
150
200

Pathways

PathwaySourceExternal ID
Arachidonic acid metabolismKEGGko00590
Arachidonic acid metabolismKEGGhsa00590
Metabolic pathwaysKEGGhsa01100
Serotonergic synapseKEGGhsa04726
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Arachidonic acid metabolismREACTOMER-HSA-2142753
Synthesis of 12-eicosatetraenoic acid derivativesREACTOMER-HSA-2142712

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
380600402023Whole exome sequencing identifies novel pathogenic variants in TGM1 and ALOX12B in patients with hereditary ichthyosis.0
380600402023Whole exome sequencing identifies novel pathogenic variants in TGM1 and ALOX12B in patients with hereditary ichthyosis.0
357687852022Survival-related indicators ALOX12B and SPRR1A are associated with DNA damage repair and tumor microenvironment status in HPV 16-negative head and neck squamous cell carcinoma patients.6
357687852022Survival-related indicators ALOX12B and SPRR1A are associated with DNA damage repair and tumor microenvironment status in HPV 16-negative head and neck squamous cell carcinoma patients.6
334354992021Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients.11
336070422021Unbound Corneocyte Lipid Envelopes in 12R-Lipoxygenase Deficiency Support a Specific Role in Lipid-Protein Cross-Linking.3
334354992021Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients.11
336070422021Unbound Corneocyte Lipid Envelopes in 12R-Lipoxygenase Deficiency Support a Specific Role in Lipid-Protein Cross-Linking.3
322534962020Mutation in ALOX12B likely cause of POI and also ichthyosis in a large Iranian pedigree.2
322534962020Mutation in ALOX12B likely cause of POI and also ichthyosis in a large Iranian pedigree.2
282363382017Summary of mutations underlying autosomal recessive congenital ichthyoses (ARCI) in Arabs with four novel mutations in ARCI-related genes from the United Arab Emirates.0
282363382017Summary of mutations underlying autosomal recessive congenital ichthyoses (ARCI) in Arabs with four novel mutations in ARCI-related genes from the United Arab Emirates.0
265755872016A novel deletion mutation in the ALOX12B gene in a Kurdish family with autosomal recessive congenital ichthyosis.0
265755872016A novel deletion mutation in the ALOX12B gene in a Kurdish family with autosomal recessive congenital ichthyosis.0
239545552014The role of lipoxygenases in epidermis.0

Citation

Dessen P

ALOX12B (arachidonate 12-lipoxygenase, 12R type)

Atlas Genet Cytogenet Oncol Haematol. 2010-02-01

Online version: http://atlasgeneticsoncology.org/gene/51324/alox12b