MYL3_HUMAN
Source:
PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence:
low (only semi-automatic identification from reviews)
Search PubMed for
(RBC AND this entry)
Gene names:
MYL3
Protein names and data:
MYL3_HUMAN
, Myosin light chain 3
, Cardiac myosin light chain 1; CMLC1; Myosin light chain 1, slow-twitch muscle B/ventricular isoform; MLC1SB; Ventricular/slow twitch myosin alkali light chain
Lenght: 195 a.a.
Mass: 21932 Da
fasta formatted sequence
Function:
Regulatory light chain of myosin. Does not bind calcium.
Disease:
( OMIM:
160790
608751
)
Cardiomyopathy, 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Genetic variants
56 - 56
E -> G (in CMH8). VAR_019842
143 - 143
E -> K (in CMH8; autosomal recessive). VAR_019843
149 - 149
M -> V (in CMH8; with mid-left ventricular chamber thickening). VAR_004599
154 - 154
R -> H (in CMH8; with mid-left ventricular chamber thickening). VAR_004600
Database cross-references
UniProt:
P08590
Ensembl:
ENST00000292327
Ensembl:
ENST00000395869
MIM:
160790
MIM:
608751
neXtProt:
NX_P08590
Antibodypedia:
P08590
(may not find the protein thus also not any antibody)
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