MYL12A

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Description

The MYL12A (myosin light chain 12A) is a protein-coding gene located on chromosome 18.

MYL12A, also known as MRLC3, is a myosin regulatory subunit crucial for regulating both smooth muscle and non-muscle cell contraction through phosphorylation. It is implicated in cellular processes like cytokinesis, receptor capping, and cell locomotion.

MYL12A is also known as HEL-S-24, MLC-2B, MLCB, MRCL3, MRLC3, MYL2B.

Associated Diseases

• dehydrated hereditary stomatocytosis
• Rh deficiency syndrome
• hemoglobin E-beta-thalassemia syndrome
• familial pseudohyperkalemia
• hemochromatosis type 5
• gluthathione peroxidase deficiency
• hemolytic anemia due to erythrocyte adenosine deaminase overproduction
• microcytic anemia with liver iron overload
• hemolytic anemia due to glutathione reductase deficiency
• megaloblastic anemia, folate-responsive
• hemoglobin D disease
• cryohydrocytosis
• sideroblastic anemia 3