2. Gene
  3. MYL6B - myosin light chain 6B Gene

MYL6B - myosin light chain 6B Gene

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

中文名称：肌球蛋白轻链 6B

种属: Homo sapiens

同用名: MLC1SA

基因 ID: 140465 | 基因类型: protein coding

关于 MYL6B

Cytogenetic location: 12q13.2 Genomic coordinates (GRCh38): 12:56,152,587-56,157,982 (from NCBI)

This gene has 15 transcripts (splice variants), 254 orthologues and 4 paralogues. Broad expression in testis (RPKM 60.9), prostate (RPKM 37.4) and 24 other tissues.

功能概要

肌球蛋白是一种六聚体 ATP 酶细胞运动蛋白。它由两条重链、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。该基因编码在慢肌骨骼肌和非肌肉组织中表达的肌球蛋白碱性轻链。可变剪接导致多个转录本变体。[RefSeq 提供，2010 年 12 月]

Myosin is a hexameric ATPase cellular motor protein. It is composed of two heavy chains, two nonphosphorylatable alkali LIGHT chains, and two phosphorylatable regulatory LIGHT chains. This gene encodes a Myosin alkali LIGHT chain expressed in both slow-twitch skeletal muscle and in nonmuscle tissue. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]

MYL6B 基因产物(2)

mRNA Protein Name
NM_001199629.2 NP_001186558.1 myosin light chain 6B
NM_002475.5 NP_002466.1 myosin light chain 6B

MYL6B 蛋白结构

EF-hand_6

EF-hand_6: EF-hand domain (68 - 97)

EF-hand_7

EF-hand_7: EF-hand domain pair (150 - 203)

  • 0
  • 100
  • 208 a.a.
蛋白主名 其他名称

myosin light chain 6B

myosin alkali light chain 1 slow a

关联疾病

疾病名称 别名
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

KAESER SYNDROME

Stark-Kaeser Syndrome

Neurogenic Scapuloperoneal Syndrome Kaeser Type

Neurogenic Scapuloperoneal Syndrome, Kaeser Type

Scapuloperoneal Syndrome, Neurogenic Type, Of Kaeser

SCPNK

Scapuloperoneal Syndrome Type Kaeser
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-RS08919 MYL6B Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris MYL6B VGNC VGNC:43546
Mus musculus MYL6B MGD MGI:1917789
Bos taurus MYL6B VGNC VGNC:31803
Macaca mulatta MYL6B VGNC VGNC:75043
Rattus norvegicus MYL6B RGD RGD:1560334
Felis catus MYL6B VGNC VGNC:63678
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