ALOX12B encodes arachidonate 12-lipoxygenase, 12R type (701 aa). 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. Highest expression in Skin Sun Exposed Lower leg (162.5 TPM) and Skin Not Sun Exposed Suprapubic (120.2 TPM).

Autosomal recessive congenital ichthyosis 2 is associated with mutations in the ALOX12B gene on chromosome 17.

The ALOX12B protein participates in Arachidonate is oxidised to 12R-HpETE by ALOX12B, ALOXE3 isomerises 12R-HpETE to HXA3, and Synthesis of 12-eicosatetraenoic acid derivatives pathways.

ALOX12B is classified as a druggable target (Clinically Actionable, Druggable Genome, and Enzyme categories) with score 0.0.

Genetic testing for ALOX12B is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 3 always present features, 2 very common features, 2 common features.

No clinical trials have been registered for autosomal recessive congenital ichthyosis 2.

13 publications have been identified in PubMed for autosomal recessive congenital ichthyosis 2. Research spans Case Report / Case Series (38%), Gene Therapy / Novel Therapeutics (31%), and Review / Meta-Analysis (15%).

Recent Publications

• Palanki R (2026). [PMID: 41650933](https://pubmed.ncbi.nlm.nih.gov/41650933/). *Cell stem cell*. [Gene Therapy / Novel Therapeutics]

• Apaydin DC (2026). [PMID: 41605220](https://pubmed.ncbi.nlm.nih.gov/41605220/). *Cell stem cell*. [Epidemiology / Natural History]

• Sefer AP (2025). [PMID: 41346588](https://pubmed.ncbi.nlm.nih.gov/41346588/). *Frontiers in immunology*. [Basic Science / Preclinical]

• Guo Y (2025). [PMID: 40193669](https://pubmed.ncbi.nlm.nih.gov/40193669/). *Medicine*. [Case Report / Case Series]

• Chang TY (2025). [PMID: 39794051](https://pubmed.ncbi.nlm.nih.gov/39794051/). *Taiwanese journal of obstetrics & gynecology*. [Review / Meta-Analysis]

• Mocarska M (2025). [PMID: 40899446](https://pubmed.ncbi.nlm.nih.gov/40899446/). *Journal of mother and child*. [Review / Meta-Analysis]

• Li GX (2025). [PMID: 40000070](https://pubmed.ncbi.nlm.nih.gov/40000070/). *Pediatric dermatology*. [Case Report / Case Series]

• Ponomarev A (2025). [PMID: 41155269](https://pubmed.ncbi.nlm.nih.gov/41155269/). *International journal of molecular sciences*. [Gene Therapy / Novel Therapeutics]

• Zoullas S (2024). [PMID: 37984424](https://pubmed.ncbi.nlm.nih.gov/37984424/). *American journal of medical genetics. Part A*. [Case Report / Case Series]

• van der Velden JJAJ (2024). [PMID: 39072839](https://pubmed.ncbi.nlm.nih.gov/39072839/). *The Journal of dermatology*. [Gene Therapy / Novel Therapeutics]