MYL9 phospho S20

Myosin regulatory subunit that plays an important role in regulation of both smooth muscle and nonmuscle cell contractile activity via its phosphorylation. Implicated in cytokinesis, receptor capping, and cell locomotion (PubMed:11942626, PubMed:2526655). In myoblasts, may regulate PIEZO1-dependent cortical actomyosin assembly involved in myotube formation (By similarity).

Megacystis-microcolon-intestinal hypoperistalsis syndrome 4

MMIHS4

A form of megacystis-microcolon-intestinal hypoperistalsis syndrome, a congenital visceral myopathy primarily affecting females, and characterized by loss of smooth muscle contraction in the bladder and intestine. Affected individuals present at birth with functional obstruction of intestine, microcolon, dilation of bladder, and secondary hydronephrosis. The majority of cases have a fatal outcome due to malnutrition and sepsis, followed by multiorgan failure. MMIHS4 inheritance is autosomal recessive.

None

The disease may be caused by variants affecting the gene represented in this entry.

Phosphorylation increases the actin-activated myosin ATPase activity and thereby regulates the contractile activity. It is required to generate the driving force in the migration of the cells but not necessary for localization of myosin-2 at the leading edge. Phosphorylation is required for myotube formation.

Smooth muscle tissues and in some, but not all, nonmuscle cells.

• Cytoplasm
• Cytoskeleton
• Cytoplasm
• Cell cortex
• Colocalizes with F-actin, MYH9 and PIEZO1 at the actomyosin cortex in myoblasts.

MLC2, MRLC1, MYRL2, MYL9, Myosin regulatory light polypeptide 9, 20 kDa myosin light chain, MLC-2C, Myosin RLC, Myosin regulatory light chain 9, Myosin regulatory light chain MRLC1, LC20

• entrezGene:10398
• omim:609905
• swissprot:P24844

Proteins

Oncology

19827Da