ALOX12B

Chr 17p13.1

arachidonate 12-lipoxygenase, 12R type

Aliases:: 12R-LOX
MANE:: ENST00000647874.1

OMIM: 603741 ↗NCBI: 242 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

ALOX12B · O75342

v62025-08-01

Predicted Aligned Error matrix for ALOX12B — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

92.2/ 100

Very high

701 residues

Confidence breakdown

Very high(≥ 90)80%
Confident(70–90)15%
Low(50–70)4%
Very low(< 50)2%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Autosomal recessive congenital ichthyosis
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and erythrokeratoderma
BIALLELIC, autosomal or pseudoautosomal
Palmoplantar keratoderma and erythrokeratodermas
BIALLELIC, autosomal or pseudoautosomal
Palmoplantar keratodermas
BIALLELIC, autosomal or pseudoautosomal
Ectodermal dysplasia
BIALLELIC, autosomal or pseudoautosomal
Familial cicatricial alopecia
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

congenital non-bullous ichthyosiform erythroderma
0.75
self-healing collodion baby
0.73
lamellar ichthyosis
0.64
ichthyosis
0.52
congenital reticular ichthyosiform erythroderma
0.45
leukoencephalopathy with calcifications and cysts
0.45
autosomal recessive congenital ichthyosis
0.41
inherited ichthyosis
0.39
hereditary disease
0.19
Uterine leiomyoma
0.13

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Arachidonate 12-lipoxygenase, 12R-type

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:21558561, PubMed:9618483, PubMed:9837935). 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)