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

What is the official name of the MYL2 gene?

The official name of this gene is “myosin light chain 2.”

MYL2 is the gene's official symbol. The MYL2 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the MYL2 gene?

From NCBI GeneThis link leads to a site outside Genetics Home Reference.:

Thus gene encodes the regulatory light chain associated with cardiac myosin beta (or slow) heavy chain. Ca+ triggers the phosphorylation of regulatory light chain that in turn triggers contraction. Mutations in this gene are associated with mid-left ventricular chamber type hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]

From UniProt (MLRV_HUMAN)This link leads to a site outside Genetics Home Reference.:

Contractile protein that plays a role in heart development and function (By similarity). Following phosphorylation, plays a role in cross-bridge cycling kinetics and cardiac muscle contraction by increasing myosin lever arm stiffness and promoting myosin head diffusion; as a consequence of the increase in maximum contraction force and calcium sensitivity of contraction force. These events altogether slow down myosin kinetics and prolong duty cycle resulting in accumulated myosins being cooperatively recruited to actin binding sites to sustain thin filament activation as a means to fine-tune myofilament calcium sensitivity to force (By similarity). During cardiogenesis plays an early role in cardiac contractility by promoting cardiac myofibril assembly.

How are changes in the MYL2 gene related to health conditions?

Genetics Home Reference provides information about familial hypertrophic cardiomyopathy, which is associated with changes in the MYL2 gene.
UniProt (MLRV_HUMAN)This link leads to a site outside Genetics Home Reference. provides the following information about the MYL2 gene's known or predicted involvement in human disease.

Cardiomyopathy, familial hypertrophic 10 (CMH10): 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. The disease is caused by mutations affecting the gene represented in this entry.

NCBI GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the MYL2 gene.
  • Familial hypertrophic cardiomyopathy 10
OMIM.orgThis link leads to a site outside Genetics Home Reference., a catalog designed for genetics professionals and researchers, provides the following information about the MYL2 gene and its association with health conditions.

Where is the MYL2 gene located?

Cytogenetic Location: 12q24.11

Molecular Location on chromosome 12: base pairs 110,910,819 to 110,920,600

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBIThis link leads to a site outside Genetics Home Reference.)

The MYL2 gene is located on the long (q) arm of chromosome 12 at position 24.11.

The MYL2 gene is located on the long (q) arm of chromosome 12 at position 24.11.

More precisely, the MYL2 gene is located from base pair 110,910,819 to base pair 110,920,600 on chromosome 12.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about MYL2?

You and your healthcare professional may find the following resources about MYL2 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the MYL2 gene or gene products?

  • CMH10
  • MLC2
  • MLC-2s/v

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding MYL2?

actin ; benign ; Ca ; calcium ; cardiac ; cardiomyopathy ; contraction ; dyspnea ; familial ; gene ; hereditary ; hypertrophic ; hypertrophy ; intrafamilial variability ; myofibril ; myosin ; palpitations ; phosphorylation ; protein ; sensitivity ; septum ; syncope

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.


The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

Published: February 8, 2016