Property Summary

NCBI Gene PubMed Count 36
PubMed Score 67.36
PubTator Score 60.68

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
Amyotrophic Lateral Sclerosis -1.610 0.000
acute quadriplegic myopathy -3.574 0.000
limb girdle muscular dystrophy 2A -1.158 0.009

Synonym

Accession P08590 B2R534 Q9NRS8
Symbols CMH8
VLC1
VLCl
MLC1V
MLC1SB
MLC-lV/sb

Gene

Gene RIF (17)

PMID Text
26443374 In Familial Hypertrophic Cardiomyopathy, the MYL3 Arg94His variant was associated with high disease penetrance and substantial interventricular septal hypertrophy
21823217 This is the first report of mutations in TPM1, MY L3, and MYL2 associated with primary, non-hypertrophied restrictive cardiomyopathy.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20359594 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20031618 Observational study of gene-disease association. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19853701 Observational study of gene-disease association. (HuGE Navigator)
19794400 Treatment of human brain endothelial cells with Tat markedly elevates GTP-RhoA levels and the potential downstream effectors, such as myosin phosphatase target subunit 1 and myosin light chain
19293840 Observational study of gene-disease association. (HuGE Navigator)
18513529 Observational study of gene-disease association. (HuGE Navigator)
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AA Sequence

MAPKKPEPKKDDAKAAPKAAPAPAPPPEPERPKEVEFDASKIKIEFTPEQIEEFKEAFMLFDRTPKCEMK      1 - 70
ITYGQCGDVLRALGQNPTQAEVLRVLGKPRQEELNTKMMDFETFLPMLQHISKNKDTGTYEDFVEGLRVF     71 - 140
DKEGNGTVMGAELRHVLATLGERLTEDEVEKLMAGQEDSNGCINYEAFVKHIMSS                   141 - 195
//

Text Mined References (37)

PMID Year Title
26443374 2016 Whole exome sequencing combined with integrated variant annotation prediction identifies a causative myosin essential light chain variant in hypertrophic cardiomyopathy.
23594557 2013 Infantile hypertrophic cardiomyopathy associated with a novel MYL3 mutation.
21823217 2011 Furthering the link between the sarcomere and primary cardiomyopathies: restrictive cardiomyopathy associated with multiple mutations in genes previously associated with hypertrophic or dilated cardiomyopathy.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20359594 2010 Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations.
20031618 2009 Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19853701 2009 Histologic characterization of hypertrophic cardiomyopathy with and without myofilament mutations.
19293840 2009 The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy.
18513529 2008 Relationship between sex, shape, and substrate in hypertrophic cardiomyopathy.
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