MYL3 gene

myosin light chain 3

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Regulatory light chain of myosin. Does not bind calcium.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Familial hypertrophic cardiomyopathy 8

From UniProt:

Cardiomyopathy, familial hypertrophic 8 (CMH8): 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. [MIM:608751]

Cytogenetic Location: 3p21.31, which is the short (p) arm of chromosome 3 at position 21.31

Molecular Location: base pairs 46,857,867 to 46,863,483 on chromosome 3 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 3p21.31, which is the short (p) arm of chromosome 3 at position 21.31
  • CMH8
  • MLC-lV/sb
  • MLC1SB
  • MLC1V
  • VLC1
  • VLCl