ALOX12B - arachidonate 12-lipoxygenase, 12R type Gene

Homo sapiens

Also known as ARCI2; 12R-LOX

Gene ID: 242 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00615	ALOX12B Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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