TUBA8 - tubulin alpha 8 Gene

中文名称：微管蛋白α8

种属: Homo sapiens

同用名: CDCBM8; TUBAL2; MACTHC2

基因 ID: 51807 | 基因类型: protein coding

关于 TUBA8

Cytogenetic location: 22q11.21 Genomic coordinates (GRCh38): 22:18,110,809-18,131,732 (from NCBI)

This gene has 8 transcripts (splice variants), 153 orthologues, 23 paralogues and is associated with 3 phenotypes. Biased expression in heart (RPKM 36.8), testis (RPKM 14.8) and 3 other tissues.

功能概要

该基因编码α微管蛋白家族的一个成员。 α 微管蛋白是异二聚化并组装形成微管的两个核心蛋白家族 (α 和 β 微管蛋白) 之一。该基因的突变与多小脑回和视神经发育不全有关。交替剪接导致多个转录本变体。[RefSeq 提供，2010 年 7 月]

This gene encodes a member of the alpha tubulin protein family. Alpha tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. Mutations in this gene are associated with polymicrogyria and optic nerve hypoplasia. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]

TUBA8 基因产物(2)

mRNA	Protein	Name
NM_001193414.2	NP_001180343.1	tubulin alpha-8 chain isoform 2
NM_018943.3	NP_061816.1	tubulin alpha-8 chain isoform 1

基因本体论

分子功能

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	32296183	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

TUBA8 蛋白结构

Tubulin

Tubulin_C

0
100
200
300
400
449 a.a.

蛋白主名

其他名称

tubulin alpha-8 chain

tubulin alpha 8 trucated form

关联疾病

疾病名称

别名

Macrothrombocytopenia, Isolated, 2, Autosomal Dominant

MACTHC2

Polymicrogyria With Optic Nerve Hypoplasia

Polymicrogyria

Pmg

Colpocephaly

Vesiculocephaly

Tubulinopathy

Tubulinopathies

Leukodystrophy, Hypomyelinating, 6

Habc	Hypomyelinating Leukodystrophy 6
HLD6	H-Abc
Hypomyelination With Atrophy Of Basal Ganglia And Cerebellum	Leukodystrophy, Hypomyelinating, With Atrophy Of The Basal Ganglia And Cerebellum
Hypomyelinating Leukodystrophy With Atrophy Of The Basal Ganglia And Cerebellum	HLD
Leukodystrophy, Hypomyelinating, Type 6

Microlissencephaly

Congenital Fibrosis Of The Extraocular Muscles

Congenital Fibrosis Of Extraocular Muscles	Cfeom
Feom	Congenital External Ophthalmoplegia
Congenital Fibrosis Syndrome	General Fibrosis Syndrome

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

Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome

Cednik Syndrome	CEDNIK
Cerebral Dysgenesis, Neuropathy, Ichthyosis And Keratoderma Syndrome	Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndro
Cerebral Dysgenesis-Neuropathy-Ichthyosis-Palmoplantar Keratoderma Syndrome	Cerebral Dysgenesis-Neuropathy-Ichthyosis-Keratoderma Syndrome
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma	Neurocutaneous Syndromes

Chromosome 22q11.2 Duplication Syndrome

Chromosome 22q11.2 Microduplication Syndrome	22q11.2 Microduplication Syndrome
22q11.2 Duplication Syndrome	Duplication 22q11.2
Trisomy 22q11.2	22q11.2 Duplication
Dup(22)(Q11)

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

Lissencephaly, X-Linked, 2

X-Linked Lissencephaly With Abnormal Genitalia	Hydranencephaly With Abnormal Genitalia
Xlag	Xlisg
X-Linked Lissencephaly With Ambiguous Genitalia	LISX2
Lissencephaly, X-Linked 2	X-Linked Lissencephaly 2
X-Linked Lissencephaly-Corpus Callosum Agenesis-Genital Anomalies Syndrome	Xlag Syndrome
Lissencephaly, X-Linked, With Ambiguous Genitalia	Xlis2
X-Linked Lissencephaly - Agenesis Of The Corpus Callosum - Genital Anomalies	X-Linked Lissencephaly-Agenesis Of The Corpus Callosum-Genital Anomalies Syndrome
Xlag Syndrome	Lissencephaly X-Linked With Ambiguous Genitalia
Lissencephaly, X-Linked, Type 2	Chromosome Xq26.3 Duplication Syndrome

Periventricular Nodular Heterotopia

Periventricular Heterotopia	Pvnh
Familial Nodular Heterotopia	Heterotopia, Periventricular
Periventricular Heterotopia, X-Linked

Hypomyelinating Leukodystrophy

Hld	Leukodystrophy, Hypomyelinating

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

Lissencephaly

Pachygyria	Broad Gyri Of Cerebrum
Large Gyri Of Cerebrum	Macrogyria

Chromosome 22q11.2 Deletion Syndrome, Distal

22q11.2 Deletion Syndrome	Autosomal Dominant Opitz G/Bbb Syndrome
Catch22	Cayler Cardiofacial Syndrome
Conotruncal Anomaly Face Syndrome	Digeorge Syndrome
Sedlackova Syndrome	Shprintzen Syndrome
Velocardiofacial Syndrome	22q11.2 Distal Deletion Syndrome
Distal 22q11.2 Microdeletion Syndrome	22q11.2ds
Vcfs	Velo-Cardio-Facial Syndrome
Distal Chromosome 22q11.2 Deletion Syndrome	Chromosome 22q11.2 Deletion Syndrome Distal
Chromosome 22q11.2 Deletion Syndrome	Deletion 22q11.2 Syndrome
22q11ds	Catch 22
Digeorge Sequence	Microdeletion 22q11.2
Monosomy 22q11	Takao Syndrome
Distal Del(22)(Q11.2)	Distal Monosomy 22q11.2
Catch 22 Syndrome	Chromosome Deletion Syndrome 22q11.2, Distal

Pontocerebellar Hypoplasia

Pch	Congenital Pontocerebellar Hypoplasia
Opch	Hypoplasia, Pontocerebellar
Pontoneocerebellar Hypoplasia	Nonsyndromic Pontocerebellar Hypoplasia

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS15249	TUBA8 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Macaca mulatta	TUBA8	VGNC	VGNC:98464
Canis familiaris	TUBA8	VGNC	VGNC:47987
Bos taurus	TUBA8	VGNC	VGNC:36504
Rattus norvegicus	TUBA8	RGD	RGD:1566041
Felis catus	TUBA8	VGNC	VGNC:66697
Mus musculus	TUBA8	MGD	MGI:1858225

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站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

TUBA8 - tubulin alpha 8 Gene

关于 TUBA8

功能概要

TUBA8 基因产物(2)

TUBA8 蛋白结构

关联疾病

直系同源

热门区域

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TUBA8 - tubulin alpha 8 Gene

关于 TUBA8

功能概要

TUBA8 基因产物(2)

TUBA8 蛋白结构

关联疾病

相关产品

直系同源

热门区域

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B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z