1. Gene
  2. ALOX12B - arachidonate 12-lipoxygenase, 12R type Gene

ALOX12B - arachidonate 12-lipoxygenase, 12R type Gene

中文名称:花生四烯酸 12-脂氧合酶,12R 型

种属: Homo sapiens

同用名: ARCI2; 12R-LOX

基因 ID: 242 | 基因类型: protein coding

关于 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).

功能概要

该基因编码一种参与花生四烯酸转化为 12R-羟基二十碳四烯酸的酶。该基因的突变与非大疱性先天性鱼鳞病样红皮病有关。[RefSeq 提供,2015 年 9 月]

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 基因产物(1)

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

ALOX12B 蛋白结构

PLAT

PLAT: PLAT/LH2 domain (4 - 109)

Lipoxygenase

Lipoxygenase: Lipoxygenase (245 - 692)

  • 0
  • 200
  • 400
  • 600
  • 701 a.a.
蛋白主名 其他名称

arachidonate 12-lipoxygenase, 12R-type

12R-lipoxygenase

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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