MYL3 - myosin light chain 3 Gene
Also Known as CMH8; VLC1; VLCl; MLC1V; MLC1SB; MLC-lV/sb
Species: Homo sapiens
About MYL3
This gene has 8 transcripts (splice variants), 316 orthologues, 4 paralogues and is associated with 3 phenotypes. Restricted expression toward heart (RPKM 677.8).
Summary
MYL3 encodes Myosin light chain 3, an alkali light chain also referred to in the literature as both the ventricular isoform and the slow skeletal muscle isoform. Mutations in MYL3 have been identified as a cause of mid-left ventricular chamber type hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]
MYL3 Products (6)
| mRNA | Protein | Name |
|---|---|---|
| NM_000258.3 | NP_000249.1 | myosin light chain 3 isoform 1 |
| NM_001406937.1 | NP_001393866.1 | myosin light chain 3 isoform 1 |
| NM_001406938.1 | NP_001393867.1 | myosin light chain 3 isoform 1 |
| NM_001406939.1 | NP_001393868.1 | myosin light chain 3 isoform 1 |
| NM_001406940.1 | NP_001393869.1 | myosin light chain 3 isoform 2 |
| NM_001406941.1 | NP_001393870.1 | myosin light chain 3 isoform 3 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables actin monomer binding |
IDA
IDA: Inferred from direct assay
|
16675844 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in cardiac muscle contraction |
IMP
IMP: Inferred from mutant phenotype
|
16675844 | GOA |
| involved in regulation of striated muscle contraction |
IMP
IMP: Inferred from mutant phenotype
|
16675844 | GOA |
| involved in regulation of the force of heart contraction |
IMP
IMP: Inferred from mutant phenotype
|
16675844 | GOA |
| involved in ventricular cardiac muscle tissue morphogenesis |
IMP
IMP: Inferred from mutant phenotype
|
8673105 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in A band |
IDA
IDA: Inferred from direct assay
|
16675844 | GOA |
| located in I band |
IDA
IDA: Inferred from direct assay
|
16675844 | GOA |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
myosin light chain 3 |
|
MYL3 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P84015 | MYL3 Antibody (YA3712) | WB, IHC-P, ELISA | Human |
| HY-P84015A | MYL3 Antibody (YA3712)(PBS only) | WB, IHC-P, ELISA | Human |
| HY-P85290 | MYL3 Antibody (YA4982) | WB, IHC-P | Human |
| HY-P85656 | Myosin Heavy Chain Antibody (YA5348) | ICC/IF | Human, Mouse, Rat, FruitFly, Nematode |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
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| Hypertrophic Cardiomyopathy |
|
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| Cardiomyopathy, Familial Hypertrophic, 1 |
|
|
| Acute Myocardial Infarction |
|
|
| Myocardial Infarction |
|
|
| Danon Disease |
|
|
| Restrictive Cardiomyopathy |
|
|
| Intrinsic Cardiomyopathy |
|
|
| Left Ventricular Noncompaction |
|
|
| Myopathy, Distal, 1 |
|
|
| Congenital Fiber-Type Disproportion |
|
|
| Arrhythmogenic Right Ventricular Cardiomyopathy |
|
|
| Familial Atrial Fibrillation |
|
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| Rasopathy |
|
|
| Brugada Syndrome |
|
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| Dilated Cardiomyopathy |
|
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| Tetralogy Of Fallot |
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | MYL3 | RGD | RGD:3142 |
| Bos taurus | MYL3 | VGNC | VGNC:31801 |
| Macaca mulatta | MYL3 | VGNC | VGNC:75104 |
| Canis familiaris | MYL3 | VGNC | VGNC:43544 |
| Mus musculus | MYL3 | MGD | MGI:97268 |
| Felis catus | MYL3 | VGNC | VGNC:102647 |
| Others | MYL3 | NCBI |