MYL4 Gene (Protein Coding)

Myosin Light Chain 4

GC17P047189
GIFtS:
45
Myosin is a hexameric ATPase cellular motor protein. It is composed of two myosin heavy chains, two nonphosphorylatable myosin alkali light chains, and two phosphorylatable myosin regulatory light chains. This gene encodes a myosin alkali light chain that is found in embryonic muscle and adult atria. Two alternatively spliced transcript variants encoding the same protein have b... See more...

Aliases for MYL4 Gene

Aliases for MYL4 Gene

  • Myosin Light Chain 4 2 3 4 5
  • Myosin, Light Polypeptide 4, Alkali; Atrial, Embryonic 2 3
  • Myosin, Light Chain 4, Alkali; Atrial, Embryonic 2 3
  • Myosin, Atrial/Fetal Muscle, Light Chain 2 3
  • Atrial Myosin Light Chain 1 2 3
  • PRO1957 2 3
  • ALC1 2 3
  • AMLC 2 3
  • GT1 2 3
  • Myosin Light Chain 1, Embryonic Muscle/Atrial Isoform 4
  • Myosin Light Chain Alkali GT-1 Isoform 4
  • MYL4 5
  • MLC1 4

External Ids for MYL4 Gene

Previous GeneCards Identifiers for MYL4 Gene

  • GC17P044784
  • GC17P047685
  • GC17P045619
  • GC17P045761
  • GC17P042641
  • GC17P045286
  • GC17P040664

Summaries for MYL4 Gene

Entrez Gene Summary for MYL4 Gene

  • Myosin is a hexameric ATPase cellular motor protein. It is composed of two myosin heavy chains, two nonphosphorylatable myosin alkali light chains, and two phosphorylatable myosin regulatory light chains. This gene encodes a myosin alkali light chain that is found in embryonic muscle and adult atria. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for MYL4 Gene

MYL4 (Myosin Light Chain 4) is a Protein Coding gene. Diseases associated with MYL4 include Atrial Fibrillation, Familial, 18 and Familial Atrial Fibrillation. Among its related pathways are Apelin signaling pathway and Immune response CCR3 signaling in eosinophils. Gene Ontology (GO) annotations related to this gene include calcium ion binding and actin monomer binding. An important paralog of this gene is MYL3.

UniProtKB/Swiss-Prot Summary for MYL4 Gene

Tocris Summary for MYL4 Gene

  • Myosins are a large family of motor proteins that share the common features of ATP hydrolysis (ATPase enzyme activity), actin binding and potential for kinetic energy transduction. Originally isolated from muscle cells, almost all eukaryotic cells are known to contain myosins.

Gene Wiki entry for MYL4 Gene

Additional gene information for MYL4 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MYL4 Gene

Genomics for MYL4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for MYL4 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MYL4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MYL4

Top Transcription factor binding sites by QIAGEN in the MYL4 gene promoter:
  • GATA-3
  • NF-kappaB
  • NF-kappaB1
  • NF-kappaB2
  • RelA
  • Zic1
  • Zic3

Genomic Locations for MYL4 Gene

Latest Assembly
chr17:47,200,446-47,227,650
(GRCh38/hg38)
Size:
27,205 bases
Orientation:
Plus strand

Previous Assembly
chr17:45,286,394-45,301,045
(GRCh37/hg19 by Entrez Gene)
Size:
14,652 bases
Orientation:
Plus strand

chr17:45,277,812-45,301,045
(GRCh37/hg19 by Ensembl)
Size:
23,234 bases
Orientation:
Plus strand

Genomic View for MYL4 Gene

Genes around MYL4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYL4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYL4 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for MYL4 Gene

Proteins for MYL4 Gene

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  • Protein details for MYL4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P12829-MYL4_HUMAN
    Recommended name:
    Myosin light chain 4
    Protein Accession:
    P12829
    Secondary Accessions:
    • D3DXJ7
    • P11783

    Protein attributes for MYL4 Gene

    Size:
    197 amino acids
    Molecular mass:
    21565 Da
    Quaternary structure:
    • Myosin is a hexamer of 2 heavy chains and 4 light chains.

neXtProt entry for MYL4 Gene

Protein Expression for MYL4 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for MYL4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MYL4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MYL4 Gene

Domains & Families for MYL4 Gene

Gene Families for MYL4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for MYL4 Gene

InterPro:

Suggested Antigen Peptide Sequences for MYL4 Gene

GenScript: Design optimal peptide antigens:
  • Myosin light chain alkali GT-1 isoform (MYL4_HUMAN)
genes like me logo Genes that share domains with MYL4: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MYL4 Gene

Function for MYL4 Gene

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  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for MYL4 Gene

UniProtKB/Swiss-Prot Function:
Regulatory light chain of myosin. Does not bind calcium.
GENATLAS Biochemistry:
myosin,light polypeptide 4,alkali,atrial,skeletal,embryonic,same as MLC1-A & MLC1-EMB

Phenotypes From GWAS Catalog for MYL4 Gene

Gene Ontology (GO) - Molecular Function for MYL4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003785 actin monomer binding IDA 9180271
GO:0005509 calcium ion binding IEA --
GO:0032038 myosin II heavy chain binding NAS 16675844
GO:0051015 actin filament binding IMP 9738905
genes like me logo Genes that share ontologies with MYL4: view
genes like me logo Genes that share phenotypes with MYL4: view

Human Phenotype Ontology for MYL4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MYL4 Gene

MGI Knock Outs for MYL4:
  • Myl4 Myl4<tm1a(EUCOMM)Wtsi>

Animal Models for research

miRNA for MYL4 Gene

miRTarBase miRNAs that target MYL4

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYL4

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MYL4 Gene

Localization for MYL4 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MYL4 gene
Compartment Confidence
cytosol 5
cytoskeleton 4
plasma membrane 2
extracellular 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MYL4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0016459 myosin complex IEA --
GO:0031672 A band IMP 14985854
genes like me logo Genes that share ontologies with MYL4: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for MYL4 Gene

Pathways & Interactions for MYL4 Gene

PathCards logo

SuperPathways for MYL4 Gene

SuperPathway Contained pathways
1 Activation of cAMP-Dependent PKA
Activation of cAMP-Dependent PKA
.77
cAMP Pathway
.77
Activation of PKA through GPCR
.71
PKA Signaling
.56
2 Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
Cell adhesion Integrin-mediated cell adhesion and migration
.49
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
.49
Development MAG-dependent inhibition of neurite outgrowth
.42
Cell adhesion Tight junctions
.32
3 PAK Pathway
Antioxidant Action of Vitamin-C
.56
PAK Pathway
.56
Epithelial Adherens Junctions
.36
4 Actin Nucleation by ARP-WASP Complex
Actin Nucleation by ARP-WASP Complex
.66
RhoA Pathway
.35
5 RhoGDI Pathway
Fc-GammaR-Mediated Phagocytosis in Macrophages
.33
RhoGDI Pathway
.33
genes like me logo Genes that share pathways with MYL4: view

Pathways by source for MYL4 Gene

2 Reactome pathways for MYL4 Gene
8 GeneGo (Thomson Reuters) pathways for MYL4 Gene
  • Cell adhesion Integrin-mediated cell adhesion and migration
  • Cell adhesion Tight junctions
  • Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
  • Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation
  • Development MAG-dependent inhibition of neurite outgrowth
16 Qiagen pathways for MYL4 Gene
  • Actin Nucleation by ARP-WASP Complex
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR
  • Antioxidant Action of Vitamin-C
  • cAMP Pathway

Gene Ontology (GO) - Biological Process for MYL4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002026 regulation of the force of heart contraction IMP 16675844
GO:0030049 muscle filament sliding TAS --
GO:0032781 positive regulation of ATPase activity IMP 9738905
GO:0060048 cardiac muscle contraction IMP 14985854
genes like me logo Genes that share ontologies with MYL4: view

No data available for SIGNOR curated interactions for MYL4 Gene

Drugs & Compounds for MYL4 Gene

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(4) Drugs for MYL4 Gene - From: HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Nutra 6959
(R)-(+)-Blebbistatin Pharma non-muscle myosin II ATPases inhibitor, cell-permeable, Selective inhibitor of myosin II ATPase activity. Inactive enantiomer of (+-)-blebbistatin (Cat. No. 1760) 0
BTS Pharma Selective inhibitor of skeletal muscle myosin II ATPase activity 0

(2) Additional Compounds for MYL4 Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(+-)-Blebbistatin
674289-55-5
(S)-(-)-Blebbistatin
856925-71-8

(4) Tocris Compounds for MYL4 Gene

Compound Action Cas Number
(+-)-Blebbistatin Selective inhibitor of myosin II ATPase activity 674289-55-5
(R)-(+)-Blebbistatin Selective inhibitor of myosin II ATPase activity. Inactive enantiomer of (+-)-blebbistatin (Cat. No. 1760) 1177356-70-5
(S)-(-)-Blebbistatin Selective inhibitor of myosin II ATPase activity. Active enantiomer of (+-)-blebbistatin (Cat. No. 1760) 856925-71-8
BTS Selective inhibitor of skeletal muscle myosin II ATPase activity 1576-37-0
genes like me logo Genes that share compounds with MYL4: view

Transcripts for MYL4 Gene

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mRNA/cDNA for MYL4 Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYL4

Alternative Splicing Database (ASD) splice patterns (SP) for MYL4 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b ^ 9
SP1: - - -
SP2: - -
SP3: -
SP4: - -
SP5:
SP6: - - - -
SP7: -

Relevant External Links for MYL4 Gene

GeneLoc Exon Structure for
MYL4

Expression for MYL4 Gene

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  1. Primer products for research
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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MYL4 Gene

mRNA expression in normal human tissues for MYL4 Gene
mRNA expression by BioGPS for MYL4 GenemRNA expression by GTEx for MYL4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MYL4 Gene

This gene is overexpressed in Heart - Atrial Appendage (x49.6).

Protein differential expression in normal tissues from HIPED for MYL4 Gene

This gene is overexpressed in Fetal heart (39.6), Prostate (15.3), and Heart (9.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MYL4 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MYL4

SOURCE GeneReport for Unigene cluster for MYL4 Gene:

Hs.463300

Evidence on tissue expression from TISSUES for MYL4 Gene

  • Heart(5)
  • Muscle(4.8)
  • Blood(4.3)
  • Pancreas(4.1)
  • Spleen(4.1)
  • Nervous system(2)
  • Bone marrow(2)
genes like me logo Genes that share expression patterns with MYL4: view

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MYL4 Gene

Orthologs for MYL4 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for MYL4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia MYL4 29 30
  • 99.58 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia MYL4 30
  • 95 (a)
 OneToOne
Cow
(Bos Taurus)
 Mammalia MYL4 29 30
  • 93.05 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia MYL4 29 30
  • 92.45 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Myl4 29 16 30
  • 89.94 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Myl4 29
  • 89.52 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia MYL4 30
  • 74 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves MYL4 29 30
  • 80.92 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia MYL4 30
  • 85 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia myl4 29
  • 75.89 (n)
Str.7898 29
Zebrafish
(Danio rerio)
 Actinopterygii cmlc1 30
  • 77 (a)
 OneToMany
myl4 29 30
  • 73.17 (n)
 OneToMany
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.7231 29
Fruit Fly
(Drosophila melanogaster)
 Insecta Mlc-c 30 31
  • 52 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea mlc-5 30
  • 48 (a)
 ManyToMany
mlc-6 30
  • 47 (a)
 ManyToMany
T12D8.6 31
  • 46 (a)
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes MLC1 30
  • 36 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.211 30
  • 60 (a)
 ManyToMany
CSA.6288 30
  • 47 (a)
 ManyToMany
CSA.6678 30
  • 46 (a)
 ManyToMany
CSA.4806 30
  • 46 (a)
 ManyToMany
Species where no ortholog for MYL4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for MYL4 Gene

ENSEMBL:
Gene Tree for MYL4 (if available)
TreeFam:
Gene Tree for MYL4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MYL4: view image
Alliance of Genome Resources:
Additional Orthologs for MYL4

Paralogs for MYL4 Gene

Paralogs for MYL4 Gene

(11) SIMAP similar genes for MYL4 Gene using alignment to 6 proteins:

  • MYL4_HUMAN
  • I3L1K6_HUMAN
  • I3L1R3_HUMAN
  • I3L3U1_HUMAN
  • I3L4B1_HUMAN
  • I3L532_HUMAN
genes like me logo Genes that share paralogs with MYL4: view

Variants for MYL4 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MYL4 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
1010457 Uncertain Significance: Atrial fibrillation, familial, 18 47,221,712(+) C/T
NM_002476.2(MYL4):c.344C>T (p.Thr115Met) 		MISSENSE
1011955 Uncertain Significance: Atrial fibrillation, familial, 18 47,222,449(+) A/G
NM_002476.2(MYL4):c.557A>G (p.Asn186Ser) 		MISSENSE
1016119 Uncertain Significance: Atrial fibrillation, familial, 18 47,219,988(+) G/T
NM_002476.2(MYL4):c.248G>T (p.Arg83Leu) 		MISSENSE
1017440 Uncertain Significance: Atrial fibrillation, familial, 18 47,213,816(+) C/G
NM_002476.2(MYL4):c.153C>G (p.Asp51Glu) 		MISSENSE
1021850 Uncertain Significance: Atrial fibrillation, familial, 18 47,221,721(+) C/G
NM_002476.2(MYL4):c.353C>G (p.Pro118Arg) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MYL4 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for MYL4 Gene

Variant ID Type Subtype PubMed ID
nsv1146669 OTHER inversion 26484159

Variation tolerance for MYL4 Gene

Residual Variation Intolerance Score: 66.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.63; 31.30% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MYL4 Gene

Human Gene Mutation Database (HGMD)
MYL4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MYL4
Leiden Open Variation Database (LOVD)
MYL4

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYL4 Gene

Disorders for MYL4 Gene

MalaCards: The human disease database

(13) MalaCards diseases for MYL4 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search MYL4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MYL4_HUMAN
  • Atrial fibrillation, familial, 18 (ATFB18) [MIM:617280]: A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. {ECO:0000269 PubMed:27066836}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for MYL4

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with MYL4: view

No data available for Genatlas for MYL4 Gene

Publications for MYL4 Gene

  1. A mutation in the atrial-specific myosin light chain gene (MYL4) causes familial atrial fibrillation. (PMID: 27066836) Orr N … Gollob MH (Nature communications 2016) 3 4 72
  2. Molecular cloning and characterization of human atrial and ventricular myosin alkali light chain cDNA clones. (PMID: 3417683) Kurabayashi M … Yazaki Y (The Journal of biological chemistry 1988) 2 3 4
  3. Human atrial myosin light chain 1 expression attenuates heart failure. (PMID: 16106982) Abdelaziz AI … Morano I (Advances in experimental medicine and biology 2005) 3 22
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. Functional characterization of the human atrial essential myosin light chain (hALC-1) in a transgenic rat model. (PMID: 14985854) Abdelaziz AI … Morano I (Journal of molecular medicine (Berlin, Germany) 2004) 3 22

ExternalLinks

View latest publications for MYL4 gene in Mastermind

Products for MYL4 Gene

Sources for MYL4 Gene