2. Gene
  3. DCX - doublecortin Gene

DCX - doublecortin Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：双皮质素

种属: Homo sapiens

同用名: DC; DBCN; LISX; SCLH; XLIS

基因 ID: 1641 | 基因类型: protein coding

关于 DCX

Cytogenetic location: Xq23 Genomic coordinates (GRCh38): X:111,293,779-111,412,192 (from NCBI)

This gene has 12 transcripts (splice variants), 123 orthologues, 6 paralogues and is associated with 5 phenotypes. Biased expression in brain (RPKM 4.3) and endometrium (RPKM 1.0).

功能概要

该基因编码 doublecortin 家族的一个成员。该基因编码的蛋白质是一种细胞质蛋白，包含两个与微管结合的双皮质素结构域。在发育中的皮层中，皮层神经元必须长距离迁移才能到达其最终分化的部位。编码的蛋白质似乎通过调节微管的组织和稳定性来指导神经元迁移。此外，编码的蛋白质与 LIS1 相互作用，LIS1 是血小板活化因子乙酰水解酶的调节 γ 亚基，这种相互作用对于发育中皮层中微管的正常功能很重要。该基因的突变导致发育过程中神经元的异常迁移并破坏皮质的分层，导致女性癫痫、认知障碍、皮质下带异位 (“双皮质”综合征) 和男性无脑回畸形 (“平滑脑”综合征) 。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供，2010 年 9 月]

This gene encodes a member of the doublecortin family. The protein encoded by this gene is a cytoplasmic protein and contains two doublecortin domains, which bind microtubules. In the developing cortex, cortical neurons must migrate over long distances to reach the site of their final differentiation. The encoded protein appears to direct neuronal migration by regulating the organization and stability of microtubules. In addition, the encoded protein interacts with LIS1, the regulatory gamma subunit of platelet activating factor acetylhydrolase, and this interaction is important to proper microtubule function in the developing cortex. Mutations in this gene cause abnormal migration of neurons during development and disrupt the layering of the cortex, leading to epilepsy, cognitive disability, subcortical band heterotopia ("double cortex" syndrome) in females and lissencephaly ("smooth brain" syndrome) in males. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2010]

DCX 基因产物(11)

mRNA Protein Name
NM_000555.3 NP_000546.2 neuronal migration protein doublecortin isoform a
NM_001195553.2 NP_001182482.1 neuronal migration protein doublecortin isoform d
NM_001369370.1 NP_001356299.1 neuronal migration protein doublecortin isoform d
NM_001369371.1 NP_001356300.1 neuronal migration protein doublecortin isoform b
NM_001369372.1 NP_001356301.1 neuronal migration protein doublecortin isoform e
NM_001369373.1 NP_001356302.1 neuronal migration protein doublecortin isoform f
NM_001369374.1 NP_001356303.1 neuronal migration protein doublecortin isoform f
NM_001410715.1 NP_001397644.1 neuronal migration protein doublecortin isoform g
NM_178151.3 NP_835364.1 neuronal migration protein doublecortin isoform c
NM_178152.3 NP_835365.1 neuronal migration protein doublecortin isoform b
NM_178153.3 NP_835366.1 neuronal migration protein doublecortin isoform c

DCX 蛋白结构

DCX

DCX: Doublecortin (151 - 215)

DCX

DCX: Doublecortin (278 - 339)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 441 a.a.
蛋白主名 其他名称

neuronal migration protein doublecortin

doublecortex

重组 DCX 蛋白

目录号 产品名 蛋白编号 纯度
HY-P75282 Doublecortin/DCX Protein, Human (His) O43602-2 (A45-V150) ≥95%

关联疾病

疾病名称 别名
Lissencephaly, X-Linked, 1

Lissencephaly Type 1 Due To Doublecortin Gene Mutation

Xlis

Lissencephaly, X-Linked

LISX1

Lissencephaly And Agenesis Of Corpus Callosum

Subcortical Laminal Heterotopia, X-Linked

X-Linked Lissencephaly 1

X-Linked Lissencephaly

Double Cortex

Xlis1

Lissencephaly X-Linked

Lisx

X-Linked Lissencephaly Type 1

Lissencephaly, X-Linked 1

Subcortical Band Heterotopia X-Linked

SBHX

Sclh

Subcortical Laminar Heterotopia

Lissencephaly, X-Linked, Type 1

Subcortical Band Heterotopia
Band Heterotopia

Subcortical Band Heterotopia

Double Cortex Syndrome

Subcortical Laminar Heterotopia

Double Cortex

Band Heterotopia Of Brain

BH

Heco

Heterotopic Cortex

Familial Band Heterotopia

Dc

Dc Syndrome

Heterotopia, Subcortical Band

Sbh

Sclh

Bhy
Lissencephaly 1

LIS1

Classic Lissencephaly

Ils

Subcortical Laminar Heterotopia

Lissencephaly Due To Lis1 Mutation

Lissencephaly Sequence, Isolated

Lissencephaly, Classic

Pafah1b1-Related Lissencephaly

Classical Lissencephaly

Lissencephaly Type 1

Lissencephaly-1

Subcortical Band Heterotopia

Double Cortex

Lissencephaly Classic

Lissencephaly Sequence Isolated

Isolated Lissencephaly Sequence

Type 1 Lissencephaly

Lissencephaly Syndrome Type 1

SBH

Sclh

Lissencephaly, Type 1

Type I Lissencephaly
Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder
Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder
Lissencephaly

Pachygyria

Broad Gyri Of Cerebrum

Large Gyri Of Cerebrum

Macrogyria
Fucosidosis

Alpha-L-Fucosidase Deficiency

Fucosidase Deficiency Disease

A-Fucosidase Deficiency

Alpha Fucosidase Deficiency

Lysosomal Storage Disease Caused By Defective Alpha-L-Fucosidase With Accumulation Of Fucose In The Tissues

Alpha-Fucosidase Deficiency

Fucosidase Deficiency

FUCA1D
Cerebellar Hypoplasia
Epilepsy

Epilepsy Syndrome

Epileptic Syndrome

Epilepsies

Symptomatic Epilepsies

Post Traumatic Epilepsy

Traumatic Epilepsy

Traumatic Epileptic

Epilepsy Due To Hippocampal Sclerosis

Epilepsy With Ammon'S Horn Sclerosis

Epilepsy Due To Cortical Dysplasia

Epilepsy Due To Neuronal Migration Disorders
Retinitis Pigmentosa 1

RP1

Retinitis Pigmentosa-1

Retinitis Pigmentosa, Type 1
Periventricular Nodular Heterotopia

Periventricular Heterotopia

Pvnh

Familial Nodular Heterotopia

Heterotopia, Periventricular

Periventricular Heterotopia, X-Linked
Tuberous Sclerosis

Tuberous Sclerosis Syndrome

Bourneville'S Disease

Epiloia

Cerebral Sclerosis

Tuberose Sclerosis

Tuberous Sclerosis 1

Bourneville Disease

Bourneville Phakomatosis

Pringle'S Disease
Lissencephaly 10

LIS10
Zellweger Syndrome

Cerebrohepatorenal Syndrome

Zellweger Leukodystrophy

Zs

Congenital Iron Overload

Chr

Zws

Severe Pbd-Zsd

Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
Ganglioglioma

Childhood Ganglioglioma

Adult Ganglioglioma

Cns Ganglioglioma

Mixed Cell Tumors Containing Both Neural Ganglionic Cells And Neural Glial Cell Components
Brain Oligodendroglioma

Oligodendroglioma Of Brain
Miller-Dieker Lissencephaly Syndrome

Miller-Dieker Syndrome

Mds

MDLS

Miller Dieker Syndrome

Classical Lissencephaly Syndrome

Lissencephaly Due To 17p13.3 Deletion

Monosomy 17p13.3

Telomeric Deletion 17p

Classical Lissencephaly
Pilocytic Astrocytoma

Juvenile Pilocytic Astrocytoma

Grade I Astrocytic Tumor

Piloid Astrocytoma
Lissencephaly 7 With Cerebellar Hypoplasia

LIS7

Lissencephaly 7, With Cerebellar Hypoplasia

Lissencephaly, Type 7, With Cerebellar Hypoplasia
Polymicrogyria, Bilateral Perisylvian, X-Linked

Bilateral Perisylvian Polymicrogyria

Polymicrogyria, Bilateral Perisylvian

Pmgx

Perisylvian Syndrome, Congenital Bilateral

Cbps

Congenital Bilateral Perisylvian Syndrome

Perisylvian Syndrome

BPPX

Bpp
Chromosome 17p13.3, Centromeric, Duplication Syndrome

Chromosome 17p13.3 Duplication Syndrome

17p13.3 Duplication Syndrome

17p13.3 Microduplication Syndrome

Trisomy 17p13.3

Chromosome 17p13.3 Centromeric Duplication Syndrome

Dup(17)(P13.3)
Schizophrenia 12

Sczd12

Schizophrenia Susceptibility Locus, Chromosome 1p-Related
Reading Disorder

Specific Reading Disorder

Reading

Dyslexia

Developmental Reading Disorder
Stroke, Ischemic

Cerebral Infarction

Stroke

Ischemic Stroke

Cerebrovascular Accident

Cerebral Infarction, Susceptibility To

Stroke, Ischemic, Susceptibility To

Cerebral Infarct

Ischemic Stroke, Susceptibility To

Stroke, Susceptibility To

Cva - Cerebral Infarction

ISCHSTR

Ischemic Cerebrovascular Accident
Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1
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

相关产品

Pre-clinical Phase
生物活性分子 (2)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-117787 TUG-905 Agonist / 否
HY-RS03601 DCX Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus DCX MGD MGI:1277171
Rattus norvegicus DCX RGD RGD:620670
Bos taurus DCX VGNC VGNC:56525
Canis familiaris DCX VGNC VGNC:54132
Others DCX NCBI
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