GENE REFERENCE / HGNC:430

ALOX12B

arachidonate 12-lipoxygenase, 12R type

protein-coding gene17p13.1Gene information

What does this gene do?

The ALOX12B gene provides instructions for making an enzyme called 12R-LOX. This enzyme is part of a family of enzymes called arachidonate lipoxygenases. Most of these enzymes help add an oxygen molecule to a particular fatty acid called arachidonic acid. Arachidonate lipoxygenases add oxygen molecules at different locations on the arachidonic acid molecule, producing a variety of substances called fatty acid hydroperoxides. The fatty acid hydroperoxides are then processed into molecules that play an important role in chemical signaling within cells.

Specifically, the 12R-LOX enzyme helps add an oxygen molecule to arachidonic acid to make a substance called 12R-hydroperoxyeicosatetraenoic acid (12R-HPETE). 12R-HPETE is later converted to a signaling molecule that is involved in the formation of the layers of fats (lipids) within the outermost layer of the skin (the epidermis). The lipid layers are necessary to prevent water loss (dehydration) through the skin.

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2017-07.

ClinGen reviews

We found no matching ClinGen review in the data used here. This does not rule out a link between the gene and a condition.

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 488
Submissions for variants in or overlapping this gene: 762
Submissions explicitly reporting this gene: 707
Alleles reported pathogenic / likely pathogenic: 156
VariationIDs with uncertain significance: 184
VariationIDs with conflicting classifications: 31

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about ALOX12B?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 156 alleles in ALOX12B reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in ALOX12B.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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