ALOX12B arachidonate 12-lipoxygenase, 12R type [Homo sapiens] - Gene

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Summary

Official Symbol: ALOX12Bprovided by HGNC
Official Full Name: arachidonate 12-lipoxygenase, 12R typeprovided by HGNC
Primary source: HGNC:430
See related: Ensembl:ENSG00000179477; HPRD:04772; MIM:603741; Vega:OTTHUMG00000108180
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: 12R-LOX
Summary: This gene encodes an enzyme involved in the converstion of arachidonic acid to 12R-hydroxyeicosatetraenoic acid. Mutations in this gene are associated with nonbullous congenital ichthyosiform erythroderma. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 17p13.1

Sequence :: Chromosome: 17; NC_000017.10 (7975954..7991021, complement)

See ALOX12B in Epigenomics, MapViewer

Chromosome 17 - NC_000017.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

co-overproduction of the two chaperones with 12R-LOX resulted in increased solubility of 12R-LOX and allowed the purification of milligram amounts of active enzyme for structural studies by X-ray diffraction
Title: Cloning, expression, purification, crystallization and preliminary X-ray diffraction studies of a 12R-LOX-chaperone complex.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Polymorphisms in innate immunity genes and risk of childhood leukemia.
ALOX12B mutations are the leading cause of self-improving collodion ichthyosis in Scandinavia, followed by ALOXE3 mutations, and TGM1 mutations
Title: Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients.
12-R-LOX and COX-2 play critical roles in the regulation of growth in epidermoid carcinoma
Title: Inhibition of 12-LOX and COX-2 reduces the proliferation of human epidermoid carcinoma cells (A431) by modulating the ERK and PI3K-Akt signalling pathways.
presented a novel form of ichthyosis in a patient, termed hepoxilin A(3) synthase-linked ichthyosis (HXALI), whose scales expressed high levels of 12R-LOX, but were deficient of HXA(3) synthase [hepoxilin A3 synthase]
Title: Hepoxilin A3 (HXA3) synthase deficiency is causative of a novel ichthyosis form.
mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B may have roles in autosomal recessive congenital ichthyosis
Title: Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B.
Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
Title: Polymorphism in the IL18 gene and epithelial ovarian cancer in non-Hispanic white women.
Observational study of gene-disease association. (HuGE Navigator)
Title: Risk of meningioma and common variation in genes related to innate immunity.
clinical & molecular features of 2 cases of self-healing collodion phenotype that developed mild ichthyosiform erythroderma; both patients were compound heterozygous for novel ALOX12B mutations
Title: Self-healing collodion membrane and mild nonbullous congenital ichthyosiform erythroderma due to 2 novel mutations in the ALOX12B gene.
Formation of a ligand for the nuclear receptor PPARalpha may be one possibility by which 12R-LOX and eLOX3 contribute to epidermal differentiation.
Title: Epidermal lipoxygenase products of the hepoxilin pathway selectively activate the nuclear receptor PPARalpha.

Submit: New GeneRIF Correction See all (14)

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Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Ichthyosiform erythroderma, congenital, nonbullous, 1

MIM: 242100

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description
O75342	P13647	KRT5		HPRD	PubMed
O75342	P02545	LMNA		HPRD	PubMed

Function	Evidence Code	Pubs
arachidonate 12-lipoxygenase activity	IEA Inferred from Electronic Annotation more info
iron ion binding	IEA Inferred from Electronic Annotation more info
lipoxygenase activity	IEA Inferred from Electronic Annotation more info
metal ion binding	IEA Inferred from Electronic Annotation more info
oxidoreductase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
epidermis development	TAS Traceable Author Statement more info	PubMed
leukotriene biosynthetic process	IEA Inferred from Electronic Annotation more info
lipid metabolic process	TAS Traceable Author Statement more info	PubMed

General protein information

Preferred Names: arachidonate 12-lipoxygenase, 12R-type

Names: arachidonate 12-lipoxygenase, 12R-type; 12R-lipoxygenase; epidermis-type lipoxygenase 12

NP_001130.1

EC 1.13.11.-

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_007099.1 RefSeqGene

Range

5001..20068

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001139.2 → NP_001130.1 arachidonate 12-lipoxygenase, 12R-type

Status: REVIEWED

Source sequence(s)

AC129492, AF059250, BC041058

Consensus CDS

CCDS11129.1

UniProtKB/Swiss-Prot

O75342

Related

ENSP00000315167, OTTHUMP00000135320, ENST00000319144, OTTHUMT00000226984

Conserved Domains (2) summary

cd01753
Location:2 – 116
Blast Score: 441

PLAT_LOX; PLAT domain of 12/15-lipoxygenase. As a unique subfamily of the mammalian lipoxygenases, they catalyze enzymatic lipid peroxidation in complex biological structures via direct dioxygenation of phospholipids and cholesterol esters of biomembranes and ...

pfam00305
Location:238 – 692
Blast Score: 951

Lipoxygenase; Lipoxygenase

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000017.10 Reference GRCh37.p5 Primary Assembly

Range

7975954..7991021, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000149.1 Alternate HuRef

Range

7870798..7885869, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC129492.6 (67541..82578)	None
genomic	AJ305026.1	CAC34520.1
genomic	AJ305027.1	None
genomic	CH471108.2	EAW90095.1
mRNA	AF038461.1	AAC39770.1
mRNA	AF059250.1	AAC79680.1
mRNA	BC041058.1	AAH41058.1