LMOD3 - leiomodin 3 Gene

中文名称：leiomodin 3

种属: Homo sapiens

同用名: NEM10

基因 ID: 56203 | 基因类型: protein coding

关于 LMOD3

Cytogenetic location: 3p14.1 Genomic coordinates (GRCh38): 3:69,106,065-69,122,595 (from NCBI)

This gene has 3 transcripts (splice variants), 195 orthologues, 6 paralogues and is associated with 4 phenotypes. Biased expression in heart (RPKM 44.5), prostate (RPKM 4.8) and 1 other tissue.

功能概要

由该基因编码的蛋白质是 leiomodin 蛋白质家族的成员。该蛋白质包含三个肌动蛋白结合结构域、一个原肌球蛋白结构域、一个富含亮氨酸的重复结构域和一个 Wiskott-Aldrich 综合征蛋白同源 2 结构域 (WH2) 。已经观察到这种蛋白质定位于细丝的尖端，并且有证据表明这种蛋白质充当肌动蛋白成核的催化剂，并且对于骨骼肌中肌节细丝的组织很重要。该基因的突变被认为是线粒体肌病的一个原因，因为其他基因也与该病症有关。线状肌病是一种以非进行性全身性肌肉无力和骨骼肌纤维中的蛋白质包涵体 (线状体) 为特征的疾病。该基因突变的患者通常表现为严重的先天性疾病。[RefSeq 提供，2015 年 1 月]

The protein encoded by this gene is a member of the leiomodin family of proteins. This protein contains three actin-binding domains, a tropomyosin domain, a leucine-rich repeat domain, and a Wiskott-Aldrich syndrome protein homology 2 domain (WH2). Localization of this protein to the pointed ends of thin filaments has been observed, and there is evidence that this protein acts as a catalyst of actin nucleation, and is important to the organization of sarcomeric thin filaments in skeletal muscles. Mutations in this gene have been associated as one cause of Nemaline myopathy, as Other genes have also been linked to this disorder. Nemaline myopathy is a disorder characterized by nonprogressive generalized muscle weakness and protein inclusions (nemaline bodies) in skeletal myofibers. Patients with mutations in this gene often present with a severe congenital form of the disorder. [provided by RefSeq, Jan 2015]

LMOD3 基因产物(2)

mRNA	Protein	Name
NM_001304418.3	NP_001291347.1	leiomodin-3
NM_198271.5	NP_938012.2	leiomodin-3

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables actin monomer binding	IMP IMP: 通过突变表型推断	25250574	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	32296183	GOA
enables tropomyosin binding	IMP IMP: 通过突变表型推断	25250574	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in actin nucleation	IMP IMP: 通过突变表型推断	25250574	GOA
involved in positive regulation of skeletal muscle fiber development	IMP IMP: 通过突变表型推断	25250574	GOA
involved in skeletal muscle thin filament assembly	IMP IMP: 通过突变表型推断	25250574	GOA
involved in striated muscle contraction	IMP IMP: 通过突变表型推断	25250574	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in M band	IDA IDA: 通过直接分析推断	25250574	GOA
located in cytoplasm	IDA IDA: 通过直接分析推断	25250574	GOA
located in striated muscle thin filament	IDA IDA: 通过直接分析推断	25250574	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

LMOD3 蛋白结构

Tropomodulin

0
100
200
300
400
500
560 a.a.

蛋白主名

其他名称

leiomodin-3

leiomodin 3 (fetal)

关联疾病

疾病名称

别名

Nemaline Myopathy 10

NEM10

Myopathy, Nemaline, Type 10

Typical Congenital Nemaline Myopathy

Typical Nemaline Myopathy

Severe Congenital Nemaline Myopathy

Severe Congenital Nm

Myopathy

Muscular Diseases

Myopathies

Congenital Structural Myopathy

Kleine-Levin Hibernation Syndrome

Kleine-Levin Syndrome	Familial Kleine-Levin Syndrome
Kleine Levin Syndrome	Familial Hibernation Syndrome
Recurrent Hypersomnolence	Hypersomnia-Bulimia Syndrome

Recurrent Hypersomnia

Primary Recurrent Hypersomnia	Hypersomnia Recurrent
Disorders Of Excessive Somnolence	Hypersomnia, Recurrent

Neuronopathy, Distal Hereditary Motor, Type Iia

HMN2A	Hmn Iia
Neuropathy, Distal Hereditary Motor, Type Iia	Dhmn2a
Distal Hereditary Motor Neuronopathy Type 2a	Distal Hereditary Motor Neuropathy Type Iia
Neuronopathy, Distal Hereditary Motor, Type 2a	Spinal Muscular Atrophy, Distal, Adult, Autosomal Dominant, Iia
Charcot-Marie-Tooth Disease, Spinal, Iia	Autosomal Dominant Adult Spinal Muscular Atrophy Iia
Spinal Charcot-Marie-Tooth Disease Iia	Neuronopathy, Distal Hereditary Motor, 2a
Charcot-Marie-Tooth Disease Spinal Iia	Spinal Muscular Atrophy Distal Adult Autosomal Dominant Iia
Neuropathy, Motor, Distal, Hereditary, Type 2a

Cardiomyopathy, Dilated, 2a

Dilated Cardiomyopathy 2a	CMD2A
Cardiomyopathy, Dilated, Autosomal Recessive	Cardiomyopathy, Congestive, Autosomal Recessive
Cardiomyopathy, Dilated 2a	Cardiomyopathy, Dilated, Type 2a
Autosomal Recessive Dilated Cardiomyopathy

Polyhydramnios

Nemaline Myopathy 8

NEM8	Nemaline Myopathy 8, Autosomal Recessive
Myopathy, Nemaline, Type 8

Cardiomyopathy, Dilated, 1ff

Dilated Cardiomyopathy 1ff	CMD1FF
Cardiomyopathy, Dilated 1ff	Cardiomyopathy, Dilated, Type 1ff

Congenital Contractures

Congenital Contracture

Spinal Muscular Atrophy Type 0

Very Severe Spinal Muscular Atrophy

Nemaline Myopathy 2

NEM2	Nemaline Myopathy 2, Autosomal Recessive
Nemaline Myopathy, Type 2	Neb-Related Nemaline Myopathy
Myopathy, Nemaline, Type 2

Nemaline Myopathy 5

Amish Nemaline Myopathy	NEM5
Anm	Nemaline Myopathy, Amish Type
Nemaline Myopathy 5, Amish Type	Nemaline Myopathy, Caused By Mutation In The Troponin T1 Gene
Nemaline Myopathy, Type 5	Nemaline Myopathy Amish Type
Tnnt1-Related Nemaline Myopathy	Myopathy, Nemaline, Type 5

Nemaline Myopathy 11, Autosomal Recessive

NEM11

Nemaline Myopathy 11

Nemaline Myopathy 9

NEM9	Myopathy, Nemaline, Type 9

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Berdon Syndrome
MMIHS	Megacystis Microcolon Intestinal Hypoperistalsis Syndrome
Megacystis, Microcolon, Hypoperistalsis Syndrome	Visceral Myopathy
Mmih Syndrome	Megacystis-Microcolon-Intestinal Hypoperistalsis-Hydronephrosis Syndrome
MMIHS1	Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome, Mmih
Mmhs

Respiratory Failure

Acute Respiratory Failure	Chronic Respiratory Failure
Respiratory Insufficiency	Acute-On-Chronic Respiratory Failure
Respiratory Disease	Acute And Chronic Respiratory Failure
Respiratory Insufficiency/Failure	Chronic Respiratory Disease
Pulmonary Valve Insufficiency	Chronic Disease Of Respiratory System
Respiration Disorders	Respiratory Tract Diseases
Lung Failure Nos	Pulmonary Failure
Arf - [Acute Respiratory Failure]	Acute Respiratory Insufficiency
Acute Pulmonary Insufficiency	Acute Respiration Failure
Chronic Respiration Failure

Myopathy, Centronuclear, 1

Autosomal Dominant Centronuclear Myopathy	CNM1
Centronuclear Myopathy 1	Ad-Cnm
Myopathy, Centronuclear, Autosomal Dominant	Myotubular Myopathy, Autosomal Dominant
Centronuclear Myopathy, Autosomal, Modifier Of	Autosomal Dominant Myotubular Myopathy
Dnm2-Related Centronuclear Myopathy	Centronuclear Myopathy Autosomal Dominant
Myopathies, Structural, Congenital	Myopathy, Centronuclear, Type 1

Locked-In Syndrome

Locked In Syndrome	Cerebromedullospinal Disconnection
Locked-In State	Quadriplegia

Myopathy, Spheroid Body

Spheroid Body Myopathy	Autosomal Dominant Spheroid Body Myopathy
SBM

Batten-Turner Congenital Myopathy

Congenital Myopathy	Batten Turner Congenital Myopathy
Myopathy Congenital	Myopathy, Congenital
Myotonia Congenita	Benign Congenital Myopathy

Neonatal Respiratory Failure

Respiratory Failure Of Newborn	Inadequate Pulmonary Ventilation Of Newborn
Newborn Lung Insufficiency	Newborn Pulmonary Function Inadequate
Newborn Pulmonary Insufficiency	Newborn Respiration Failure
Newborn Respiratory Insufficiency	Respiratory Insufficiency Syndrome Of Newborn

Distal Arthrogryposis

Arthrogryposis Multiplex Congenita	Arthrogryposis
Congenital Multiple Arthrogryposis	Congenital Arthromyodysplasia
Fibrous Ankylosis Of Multiple Joints	Guerin-Stern Syndrome
Guérin-Stern Syndrome	Myodystrophia Fetalis Deformans
Otto Syndrome	Rocher-Sheldon Syndrome
Rossi Syndrome	Amc
Multiple Congenital Arthrogryposis	Arthrogryposis Syndrome
Arthrogryposis, Distal	Distal Arthrogryposis Syndrome
Freeman-Sheldon Syndrome	Arthrogryposis, Distal, Type 2b
Congenital Multiplex Arthrogryposis	Amyoplasia Congenita
Congenital Amyoplasia	Amc - [Arthrogryposis Multiplex Congenita]

Congenital Fiber-Type Disproportion

Congenital Fiber Type Disproportion	Cftdm
Congenital Myopathy With Fiber Type Disproportion	Cftd
Congenital Fiber-Type Disproportion Myopathy	Fiber-Type Disproportion Myopathy, Congenital
Myopathy, Congenital With Fiber-Type Disproportion

Distal Hereditary Motor Neuronopathy Type 2

Distal Hereditary Motor Neuropathy, Type Ii	Distal Hereditary Motor Neuropathy Type 2
Distal Hereditary Motor Neuropathy Type Ii	Hmn Ii
Hmn2	Distal Hereditary Motor Neuronopathy, Type Ii
Distal Spinal Muscular Atrophy Type 2	Dhmn2
Dsma2	Neuropathy, Motor, Distal, Hereditary, Type Ii
Spinal Muscular Atrophy, Jerash Type

Multiple Pterygium Syndrome, Escobar Variant

Multiple Pterygium Syndrome	Pterygium
Escobar Syndrome	EVMPS
Pterygium Syndrome	Autosomal Recessive Multiple Pterygium Syndrome
Pterygium Colli Syndrome	Pterygium Universale
Autosomal Recessive Non-Lethal Multiple Pterygium Syndrome	Escobar Variant Multiple Pterygium Syndrome
Multiple Pterygium Syndrome, Nonlethal Type	Surfer'S Eye
Multiple Pterygium Syndrome Escobar Type	Multiple Pterygium Syndrome Nonlethal Type
Familial Pterygium Syndrome	Pterygium Colli
Multiple Pterygium Syndrome, Non-Lethal Type	Nonlethal Type Multiple Pterygium Syndrome
Pterygium Syndrome, Multiple, Escobar Type	Pterygium Of Eye
Web Eye

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-RS07724	LMOD3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Felis catus	LMOD3	VGNC	VGNC:68075
Mus musculus	LMOD3	MGD	MGI:2444169
Canis familiaris	LMOD3	VGNC	VGNC:42726
Macaca mulatta	LMOD3	VGNC	VGNC:74435
Bos taurus	LMOD3	VGNC	VGNC:30940
Rattus norvegicus	LMOD3	RGD	RGD:1564924

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

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）

LMOD3 - leiomodin 3 Gene

关于 LMOD3

功能概要

LMOD3 基因产物(2)

LMOD3 蛋白结构

关联疾病

直系同源

热门区域

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LMOD3 - leiomodin 3 Gene

关于 LMOD3

功能概要

LMOD3 基因产物(2)

LMOD3 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

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