2. Gene
  3. MYL5 - myosin light chain 5 Gene

MYL5 - myosin light chain 5 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品

中文名称：肌球蛋白轻链 5

种属: Homo sapiens

同用名: MYLC2

基因 ID: 4636 | 基因类型: protein coding

关于 MYL5

Cytogenetic location: 4p16.3 Genomic coordinates (GRCh38): 4:674,542-682,028 (from NCBI)

This gene has 9 transcripts (splice variants), 107 orthologues and 7 paralogues. Ubiquitous expression in fat (RPKM 6.7), duodenum (RPKM 6.7) and 25 other tissues.

功能概要

该基因编码肌球蛋白轻链之一，是六聚体 ATP 酶细胞运动蛋白肌球蛋白的一个组成部分。肌球蛋白由两条重链、两条不可磷酸化的碱金属轻链和两条可磷酸化的调节轻链组成。该基因产物是调节轻链之一，在胎儿肌肉和成人视网膜、小脑和基底神经节中表达。[RefSeq 提供，2008 年 7 月]

This gene encodes one of the Myosin light chains, a component of the hexameric ATPase cellular motor protein Myosin. Myosin is composed of two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. This gene product, one of the regulatory light chains, is expressed in fetal muscle and in adult retina, cerebellum, and basal ganglia. [provided by RefSeq, Jul 2008]

MYL5 基因产物(11)

mRNA Protein Name
NM_001363650.2 NP_001350579.1 myosin light chain 5 isoform 2
NM_001395441.1 NP_001382370.1 myosin light chain 5 isoform 1
NM_001395442.1 NP_001382371.1 myosin light chain 5 isoform 1
NM_001395443.1 NP_001382372.1 myosin light chain 5 isoform 1
NM_001395444.1 NP_001382373.1 myosin light chain 5 isoform 2
NM_001395445.1 NP_001382374.1 myosin light chain 5 isoform 2
NM_001395446.1 NP_001382375.1 myosin light chain 5 isoform 2
NM_001395447.1 NP_001382376.1 myosin light chain 5 isoform 2
NM_001395448.1 NP_001382377.1 myosin light chain 5 isoform 2
NM_001395449.1 NP_001382378.1 myosin light chain 5 isoform 2
NM_002477.2 NP_002468.1 myosin light chain 5 isoform 1

MYL5 蛋白结构

EF-hand_6

EF-hand_6: EF-hand domain (34 - 62)

EF-hand_6

EF-hand_6: EF-hand domain (106 - 130)

  • 0
  • 100
  • 173 a.a.
蛋白主名 其他名称

myosin light chain 5

myosin regulatory light chain 5

关联疾病

疾病名称 别名
Myopathy, Centronuclear, 2

Myopathy, Centronuclear, Autosomal Recessive

Autosomal Recessive Centronuclear Myopathy

CNM2

Centronuclear Myopathy 2

Ar-Cnm

Myotubular Myopathy, Autosomal Recessive

Autosomal Recessive Myotubular Myopathy

Centronuclear Myopathy Autosomal Recessive

Myopathy, Centronuclear, Type 2
Cardiomyopathy, Familial Hypertrophic, 1

Asymmetric Septal Hypertrophy

Familial Hypertrophic Cardiomyopathy

Hypertrophic Cardiomyopathy 1

CMH1

Hypertrophic Cardiomyopathy 19

CMH

Ventricular Hypertrophy, Hereditary

Ash

Hypertrophic Subaortic Stenosis, Idiopathic

Cardiomyopathy, Familial Hypertrophic

Cardiomyopathy, Hypertrophic, 1, Digenic

Cardiomyopathy, Familial Hypertrophic 1

Hcm

Hereditary Ventricular Hypertrophy

Idiopathic Hypertrophic Subaortic Stenosis

Hypertrophic Cardiomyopathy

Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, 1

Familial Asymmetric Septal Hypertrophy

Heritable Hypertrophic Cardiomyopathy

Fhc

Cardiomyopathy, Hypertrophic, Familial, Type 1
Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy

Cardiomyopathy, Hypertrophic

Cardiomyopathy Hypertrophic Obstructive

Cardiomyopathy, Hypertrophic, Familial

Idiopathic Myocardial Hypertrophy

Idiopathic Hypertrophic Cardiomyopathy

Obstructive Idiopathic Hypertrophic Cardiomyopathy

Obstructive Cardiomyopathy

Idiopathic Hypertrophic Subaortic Stenosis

Muscular Subaortic Stenosis

Hypertrophic Obstructive Subaortic Stenosis
Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy

Primary Dilated Cardiomyopathy

Idiopathic Dilated Cardiomyopathy

Congestive Cardiomyopathy

Idiopathic Dilation Cardiomyopathy

Primary Familial Dilated Cardiomyopathy

Cardiomyopathy, Dilated

DCM

Cardiomyopathy, Familial Dilated

Dilated Cardiomyopathy, Familial

Hypokinetic Dilated Cardiomyopathy, Familial

Familial Idiopathic Cardiomyopathy

Fdc

Cardiomyopathy, Familial Idiopathic

Idiopathic Cardiomegaly

Dilated Congestive Cardiomyopathy

Chronic Dilated Cardiomyopathy

Ccm - [Congestive Cardiomyopathy]

Cocm - [Congestive Cardiomyopathy]

Dcm - [Dilated Cardiomyopathy]

Dilated-Hypokinetic Cardiomyopathy

Congestive Idiopathic Cardiomyopathy

Primary Idiopathic Dilated Cardiomyopathy
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 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS08917 MYL5 Human Pre-designed siRNA Set A Pre-designed Sets / 否
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