MGP Database

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MGP002014

UniProt Annotations

Entry Information
Gene Namemyosin, light chain 3, alkali; ventricular, skeletal, slow
Protein EntryMYL3_HUMAN
UniProt IDP08590
SpeciesHuman
Comments
Comment typeDescription
DiseaseCardiomyopathy, familial hypertrophic 8 (CMH8) [MIM:608751]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. Rarely, patients present a variant of familial hypertrophic cardiomyopathy, characterized by mid-left ventricular chamber thickening. {ECO:0000269|PubMed:12021217, ECO:0000269|PubMed:12707239, ECO:0000269|PubMed:8673105}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionRegulatory light chain of myosin. Does not bind calcium.
PtmN-terminus is methylated by METTL11A/NTM1. {ECO:0000250}.
PtmThe N-terminus is blocked.
SimilarityContains 3 EF-hand domains. {ECO:0000255|PROSITE- ProRule:PRU00448}.
SubunitMyosin is a hexamer of 2 heavy chains and 4 light chains.
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