Arachidonate 12-Lipoxygenase, R Type

Alternative Names

  • ALOX12B
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OMIM Number

603741

NCBI Gene ID

242

Uniprot ID

O75342

Length

15,081 bases

No. of Exons

15

No. of isoforms

1

Protein Name

Arachidonate 12-Lipoxygenase, 12R-Type

Molecular Mass

80356 Da

Amino Acid Count

701

Genomic Location

chr17:8,072,636-8,087,716

Gene Map Locus
17p13.1

Description

The ALOX12B gene encodes 12R-LOX, an enzyme belonging to the arachidonate lipoxygenase family. Enzymes in this family are responsible for catalyzing the stereo-specific peroxidation of free and esterified polyunsaturated fatty acids into fatty acid hydroperoxides, which can then be transformed into signaling molecules. 12R-LOX specifically catalyzes the conversion of arachidonic acid to 12R-hydroperoxyeicosatetraenoic acid (12R-HPETE). By carrying out its function, the enzyme is believed to play a key role in the ceramide biosynthetic process and the establishment of the skin barrier to water loss.

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001139.3:c.1294C>TLebanonNC_000017.11:g.8076725G>ALikely Pathogenic, PathogenicPathogenicIchthyosiform Erythroderma, Congenital, Nonbullous, 1NG_007099.2:g.15992C>T; NM_001139.3:c.1294C>T; NP_001130.1:p.Arg432Ter39751452739539
NM_001139.3:c.944T>CUnited Arab EmiratesNC_000017.11:g.8079523A>GLikely Pathogenic, Uncertain SignificancePathogenicIchthyosiform Erythroderma, Congenital, Nonbullous, 1NG_007099.2:g.13194T>C; NM_001139.3:c.944T>C; NP_001130.1:p.Leu315Pro1977160529930992
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