Identity
HGNC
LOCATION
3p21.31
LOCUSID
ALIAS
CMH8,MLC-lV/sb,MLC1SB,MLC1V,VLC1,VLCl
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 4634
MIM: 160790
HGNC: 7584
Ensembl: ENSG00000160808
Variants:
dbSNP: 4634
ClinVar: 4634
TCGA: ENSG00000160808
COSMIC: MYL3
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA162375571 | ACTC1 | Gene | DataAnnotation | associated | |||
| PA231 | LMNA | Gene | DataAnnotation | associated | |||
| PA28707 | GLA | Gene | DataAnnotation | associated | |||
| PA31351 | MYBPC3 | Gene | DataAnnotation | associated | |||
| PA31374 | MYH7 | Gene | DataAnnotation | associated | |||
| PA31380 | MYL2 | Gene | DataAnnotation | associated | |||
| PA33752 | PRKAG2 | Gene | DataAnnotation | associated | |||
| PA36636 | TNNI3 | Gene | DataAnnotation | associated | |||
| PA36638 | TNNT2 | Gene | DataAnnotation | associated | |||
| PA36690 | TPM1 | Gene | DataAnnotation | associated | |||
| PA443632 | Cardiomyopathy, Dilated | Disease | DataAnnotation | associated | |||
| PA443633 | Cardiomyopathy, Hypertrophic | Disease | DataAnnotation | associated |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36509720 | 2022 | Properties of Cardiac Myosin with Cardiomyopathic Mutations in Essential Light Chains. | 0 |
| 36509720 | 2022 | Properties of Cardiac Myosin with Cardiomyopathic Mutations in Essential Light Chains. | 0 |
| 33288880 | 2021 | Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3. | 12 |
| 33288880 | 2021 | Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3. | 12 |
| 30605904 | 2018 | A Complete Absence of Missense Mutation in Myosin Regulatory and Essential Light Chain Genes of South Indian Hypertrophic and Dilated Cardiomyopathies. | 3 |
| 30605904 | 2018 | A Complete Absence of Missense Mutation in Myosin Regulatory and Essential Light Chain Genes of South Indian Hypertrophic and Dilated Cardiomyopathies. | 3 |
| 26443374 | 2016 | Whole exome sequencing combined with integrated variant annotation prediction identifies a causative myosin essential light chain variant in hypertrophic cardiomyopathy. | 7 |
| 26443374 | 2016 | Whole exome sequencing combined with integrated variant annotation prediction identifies a causative myosin essential light chain variant in hypertrophic cardiomyopathy. | 7 |
| 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. | 35 |
| 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. | 35 |
| 20359594 | 2010 | Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations. | 90 |
| 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. | 15 |
| 20359594 | 2010 | Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations. | 90 |
| 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. | 15 |
| 19293840 | 2009 | The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy. | 29 |
Citation
Dessen P
MYL3 (myosin light chain 3)
Atlas Genet Cytogenet Oncol Haematol. 2003-11-01
Online version: http://atlasgeneticsoncology.org/gene/41480/myl3-(myosin-light-chain-3)
