ALOX12B - arachidonate 12-lipoxygenase, 12R type Gene

Also Known as ARCI2; 12R-LOX

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 242

About ALOX12B

Cytogenetic location: 17p13.1 Genomic coordinates (GRCh38): 17:8,072,636-8,087,716 (from NCBI)

This gene has 6 transcripts (splice variants), 103 orthologues, 5 paralogues and is associated with 5 phenotypes. Biased expression in skin (RPKM 26.9) and esophagus (RPKM 2.9).

Summary

This gene encodes an enzyme involved in the conversion of arachidonic acid to 12R-hydroxyeicosatetraenoic acid. Mutations in this gene are associated with nonbullous congenital ichthyosiform erythroderma. [provided by RefSeq, Sep 2015]

ALOX12B Products (1)

mRNA	Protein	Name
NM_001139.3	NP_001130.1	arachidonate 12-lipoxygenase, 12R-type

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Referencias	Source
enables arachidonate 12(S)-lipoxygenase activity	IMP IMP: Inferred from mutant phenotype	15629692	GOA
enables oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	IDA IDA: Inferred from direct assay	21558561	GOA

Biological Process GO Annotation	Evidence	Referencias	Source
involved in arachidonate metabolic process	IMP IMP: Inferred from mutant phenotype	15629692	GOA
involved in lipoxygenase pathway	IDA IDA: Inferred from direct assay	21558561	GOA
involved in lipoxygenase pathway	IMP IMP: Inferred from mutant phenotype	15629692	GOA
involved in positive regulation of MAPK cascade	IDA IDA: Inferred from direct assay	22441738	GOA
involved in positive regulation of gene expression	IMP IMP: Inferred from mutant phenotype	22441738	GOA
involved in positive regulation of mucus secretion	IMP IMP: Inferred from mutant phenotype	22441738	GOA
involved in sphingolipid metabolic process	IDA IDA: Inferred from direct assay	21558561	GOA

Cellular Component GO Annotation	Evidence	Referencias	Source
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	9837935	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ALOX12B Protein Structure

PLAT

Lipoxygenase

0
200
400
600
701 a.a.

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

Related Diseases

Diseases	Alias
Ichthyosis, Congenital, Autosomal Recessive 2	Autosomal Recessive Congenital Ichthyosis 2 ARCI2 Ncie1 Ichthyosiform Erythroderma, Congenital Collodion Baby, Self-Healing Ichthyosiform Erythroderma, Nonbullous Congenital, 1, Formerly Ncie1, Formerly Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form, Formerly Brocq Congenital Ichthyosiform Erythroderma Nonbullous Form Nonbullous Congenital Ichthyosiform Erythroderma 1 Cie Ichthyosiform Erythroderma Brocq Congenital Non-Bullous Form Iecn1 Non-Bullous Congenital Ichthyosiform Erythroderma Type 1 Self-Healing Collodion Baby Ichthyosis, Congenital, Autosomal Recessive, Type 2 Ichthyosiform Erythroderma, Congenital, Nonbullous, 1
Autosomal Recessive Congenital Ichthyosis	Lamellar Ichthyosis Congenital Ichthyosiform Erythroderma Li Congenital Nonbullous Ichthyosiform Erythroderma Arci Congenital Lamellar Ichthyosis Nonbullous Congenital Ichthyosiform Erythroderma Cie Congenital Non-Bullous Ichthyosiform Erythroderma Erythrodermic Ichthyosis Nbcie Ncie Non-Bullous Congenital Ichthyosiform Erythroderma Collodion Baby Ichthyosis, Lamellar Non Bullous Congenital Ichthyosiform Erythroderma Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form Ichthyosiform Erythroderma, Congenital, Nonbullous, 1 Collodion Baby Syndrome Ichthyoses, Lamellar Nbie Nonbullous Ichthyosiform Erythroderma Classic Lamellar Ichthyosis Ichthyosiform Erythroderma Nonbullous Congenital Ichthyosiform Erythroderma Congenital Ichthyosis, Congenital, Autosomal Recessive Ichthyosiform Erythroderma, Congenital Collodion Fetus Non-Bullous Ichthyosiform Erythroderma
Self-Improving Collodion Baby	Self-Healing Collodion Baby Shcb Sici Self-Improving Congenital Ichthyosis
Leukoencephalopathy, Brain Calcifications, And Cysts	Leukoencephalopathy With Calcifications And Cysts LCC Labrune Syndrome
Ichthyosis	Ichthyoses Non-Syndromic Ichthyosis Congenital Ichthyosis
Ichthyosis, Congenital, Autosomal Recessive 1	Collodion Fetus Autosomal Recessive Congenital Ichthyosis 1 ARCI1 Ichthyosis Congenita Lamellar Exfoliation Of Newborn Desquamation Of Newborn Ichthyosis Congenita Ii Shcb Icr2 Bathing Suit Ichthyosis Li1 Self-Healing Collodion Baby Ichthyosis, Congenital, Autosomal Recessive 1, With Bathing Suit Distribution Collodion Baby, Self-Healing Ichthyosis, Lamellar, 1, Formerly Li1, Formerly Ichthyosis Lamellar 1 Lamellar Ichthyosis, Type 1 Bsi Autosomal Recessive Congenital Ichthyosis 1 With Bathing Suit Distribution Autosomal Recessive Congenital Ichthyosis Tgm1-Related Lamellar Ichthyosis 1 Non-Erythrodermic Ichthyosis Ichthyosis, Congenital, Autosomal Recessive, Type 1 Congenital Ichthyosis
Ichthyosis, Congenital, Autosomal Recessive 4b	Harlequin Ichthyosis Autosomal Recessive Congenital Ichthyosis 4b Hi Harlequin Fetus ARCI4B Ichthyosis Congenita, Harlequin Fetus Type Harlequin Type Ichthyosis 'Harlequin Fetus' Harlequin Type Ichthyosis Congenita Harlequin Type Ichthyosis Fetalis Harlequin Baby Syndrome Ichthyosis Congenita, Harlequin Type Ichthyosis Fetalis, Harlequin Type Ichthyosis Congenita Harlequin Fetus Type Ichthyosis, Harlequin Ichthyosis, Congenital, Autosomal Recessive, Type 4b
Trichothiodystrophy 1, Photosensitive	TTD1 Tay Syndrome Trichothiodystrophy With Congenital Ichthyosis Photosensitive Trichothiodystrophy Ibids Syndrome Ttdp Ichthyosiform Erythroderma With Hair Abnormality And Mental And Growth Retardation Ichthyosis, Congenital, With Trichothiodystrophy Pibids Syndrome Photosensitive Trichothiodystrophy 1 Trichothiodystrophy, Photosensitive Sulfur-Deficient Brittle Hair Syndrome Ttd-P Ichthyosis With Brittle Hair, Intellectual Impairment, Decreased Fertility And Short Stature Trichothiodystrophy Photosensitive Trichothiodystrophy, Type 1 Tricho-Thiodystrophy Disorder Trichothiodystrophy Syndromes Amish Brittle Hair Brain Syndrome
Ichthyosis, Congenital, Autosomal Recessive 7	ARCI7 Autosomal Recessive Congenital Ichthyosis 7
Eyelid Disease	Eyelid Diseases Eyelid Disorders
Ectropion	Ectropion Of Eyelid Everted Margin Eversion Of The Eyelid Eyelashes Turned Out Eyelid Everted Eyelid Turned Out Unspecified Ectropion Of Unspecified Eye
Ichthyosis, Congenital, Autosomal Recessive 3	Autosomal Recessive Congenital Ichthyosis 3 ARCI3 Lamellar Ichthyosis 5 Collodion Baby, Self-Healing Ichthyosis, Lamellar, 5, Formerly Li5, Formerly Li5 Self-Healing Collodion Baby Ichthyosis, Congenital, Autosomal Recessive, Type 3
X-Linked Chondrodysplasia Punctata 2	Happle Syndrome Cdpx2 Conradi-Hünermann Syndrome Chondrodysplasia Punctata 2, X-Linked X-Linked Dominant Chondrodysplasia Punctata Conradi-Hunermann Syndrome Conradi-Hünermann-Happle Syndrome Cdpxd Cpxd Chondrodystrophia Calcificans Congenita Conradi-Hunermann-Happle Syndrome X-Linked Chondrodysplasia Punctata Type 2 Chondrodysplasia Punctata, X-Linked Dominant Type
Acrokeratosis Verruciformis	Acrokeratosis Verruciformis Of Hopf Hopf Disease AKV Akv Of Hopf
Epidermolytic Hyperkeratosis	Bullous Congenital Ichthyosiform Erythroderma Bullous Ichthyosiform Erythroderma EHK Bullous Erythroderma Ichthyosiformis Congenita Of Brocq Bcie Bie Epidermolytic Ichthyosis Ichthyosis Bullosa Of Siemens Superficial Epidermolytic Ichthyosis Hyperkeratosis, Epidermolytic Congenital Bullous Ichthyosiform Erythroderma Bullous Type Ichthyosis Epidermolytic Palmoplantar Hyperkeratosis Bullous Ichthyosiform Erythroderma Congenita Bullous Erythroderma Ichthyosiforme Sei Epidermolytic Hyperkeratosis Late-Onset Epidermolytic Hyperkeratosis, Late-Onset
Ichthyosis, Congenital, Autosomal Recessive 4a	Ichthyosis Congenita Iib Icr2b Autosomal Recessive Congenital Ichthyosis 4a ARCI4A Lamellar Ichthyosis 2 Li2 Ichthyosis, Lamellar, 2, Formerly Li2, Formerly Ichthyosis Lamellar 2 Lamellar Ichthyosis, Type 2 Ichthyosis, Lamellar 2 Ichthyosis, Congenital, Autosomal Recessive, Type 4a
Ichthyosis Vulgaris	Ichthyosis Simplex Dominant Congenital Ichthyosiform Erythroderma Common Ichthyosis Fish Scale Disease VI Ichthyoses Congenital Ichthyosis
Ichthyosis, X-Linked	X-Linked Ichthyosis Steroid Sulfatase Deficiency Placental Steroid Sulfatase Deficiency Steroid Sulfatase Deficiency Disease XLI Sts Deficiency Ssdd X-Linked Recessive Ichthyosis X-Linked Ichthyosis With Steryl-Sulphatase Deficiency X-Linked Placental Steryl-Sulphatase Deficiency Ssd X Linked Ichthyosis Recessive X-Linked Ichthyosis Rxli Syndromic Recessive X-Linked Ichthyosis Recessive X-Linked Ichthyosis With Extracutaneous Manifestations Syndromic Rxli X-Linked Ichthyosis Syndrome IXL Ichthyosis X-Linked Sex-Linked Ichthyosis X-Linked Ichthyosis With Steryl-Sulfatase Deficiency
Skin Disease	Skin Diseases Genodermatosis Abnormality Of The Skin Skin Diseases, Genetic Skin And Subcutaneous Tissue Disease Dermatologic Disorders
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Child Syndrome Ichthyosiform Erythroderma, Unilateral, With Ipsilateral Malformations, Especially Absence Deformity Of Limbs Child Nevus Congenital Hemidysplasia With Ichthyosiform Nevus And Limbs Defects Congenital Hemidysplasia With Ichthyosiform Nevus And Limb Defects Ichthyosis, Child Syndrome Child Syndrome Ichthyosis CHILD
Erythrokeratodermia Variabilis Et Progressiva 1	Erythrokeratodermia Variabilis Erythrokeratodermia Variabilis Et Progressiva Greither Disease Ekv Ekvp PSEK Erythrokeratodermia Variabilis With Erythema Gyratum Repens Keratosis Palmoplantaris Transgrediens Et Progrediens Transgrediens Et Progrediens Palmoplantar Keratoderma EKVP1 Erythrokeratodermia, Progressive Symmetric Erythrokeratodermia Figurata, Congenital Familial, In Plaques Keratoderma Palmoplantaris Transgrediens Keratosis Extremitatum Hereditaria Progrediens Erythrokeratodermia Variabilis, Mendes Da Costa Type Progressive Symmetric Erythrokeratodermia Erythrokeratodermia Figurata Variabilis Greither'S Disease Ekv-P Erythrokeratodermia Variabilis Of Mendes Da Costa Progressive Symmetrical Erythrokeratoderma Of Gottron Progressive Diffuse Ppk Progressive Diffuse Palmoplantar Keratoderma Transgrediens Et Progrediens Ppk Darier-Gottron Disease Erythrokeratodermia Progressiva Symmetrica Progressive Symmetric Erythrokeratodermia, Gottron Type Congenital Familial Erythrokeratodermia Figurata In Plaques Erythrokeratodermia Progressive Symmetric Erythrokeratodermia Variabilis Mendes Da Costa Type

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Referencia número	Nombre del producto	Efecto	Pureza	Rare Diseases
HY-RS00615	ALOX12B Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	ALOX12B	VGNC	VGNC:59755
Macaca mulatta	ALOX12B	VGNC	VGNC:99114
Rattus norvegicus	ALOX12B	RGD	RGD:1305330
Canis familiaris	ALOX12B	VGNC	VGNC:37810
Mus musculus	ALOX12B	MGD	MGI:1274782
Bos taurus	ALOX12B	VGNC	VGNC:25842
Others	ALOX12B	NCBI