Gene
ALOX12B
arachidonate 12-lipoxygenase, 12R type
- HGNC 430↗(opens in a new tab)
- Ensembl gene ENSG00000179477↗(opens in a new tab)
- NCBI Gene 242↗(opens in a new tab)
Summary
- Cytogenetic location
- 17p13.1
- Coordinates
- Chromosome 17: 8,072,636–8,087,716 (GRCh38)
- Exons
- 15 exons across 15.1 kb
- Protein
- 701 amino acids
- Also known as
- 12R-LOX
- MANE Select transcript
- ENST00000647874.1NM_001139.3
- Locus type
- Protein-coding
- Very high
- Confident
- Low
- Very low
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Inherited Ichthyoses
- Autosomal recessive congenital ichthyosisAutosomal recessive
A group of recessive ichthyoses, including harlequin ichthyosis and lamellar ichthyosis, usually present at birth, often with a collodion membrane.
- 4 GenCC submitters rate it definitive or strong
▶Actionability
Early diagnosis guides neonatal care, emollient and keratolytic regimens, and heat-intolerance precautions.
How ALOX12B is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 2.5 kb of the gene's 15.1 kb; 2,106 of those bases code for the protein.
Sequencing ALOX12B
43
positions in ALOX12B where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 15.1 kb of ALOX12B, introns included, not only the 2.5 kb of exons.
Genes linked to the same conditions
- ABCA12ATP binding cassette subfamily A member 12Shares 1 condition
- ALOXE3arachidonate epidermal lipoxygenase 3Shares 1 condition
- CERS3ceramide synthase 3Shares 1 condition
- CSTAcystatin AShares 1 condition
- CYP4F22cytochrome P450 family 4 subfamily F member 22Shares 1 condition
- KRT2keratin 2Shares 1 condition
- LIPNlipase family member NShares 1 condition
- NIPAL4NIPA like domain containing 4Shares 1 condition
- PNPLA1patatin like domain 1, omega-hydroxyceramide transacylaseShares 1 condition
- SDR9C7short chain dehydrogenase/reductase family 9C member 7Shares 1 condition
- SERPINB8serpin family B member 8Shares 1 condition
- ST14ST14 transmembrane serine protease matriptaseShares 1 condition
Traits linked to ALOX12B
The Human Phenotype Ontology lists these as features of the rare conditions ALOX12B can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). ALOX12B gene: arachidonate 12-lipoxygenase, 12R type. Retrieved 17 October 2026, from https://dantelabs.com/genes/alox12b
Dante Labs. ALOX12B gene: arachidonate 12-lipoxygenase, 12R type [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/alox12b
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