MYL12A
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
