LMOD1
Function
Required for proper contractility of visceral smooth muscle cells (PubMed:28292896). Mediates nucleation of actin filaments.
Involvement in disease
Megacystis-microcolon-intestinal hypoperistalsis syndrome 3
MMIHS3
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. MMIHS3 inheritance is autosomal recessive.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the tropomodulin family.
Tissue Specificity
Detected in lung vascular smooth muscle (at protein level) (PubMed:27144530). Detected in thyroid and extraocular smooth muscle, but not skeletal muscle (PubMed:2026759). Detected in heart, aorta, skeletal muscle, colon, urinary bladder, uterus, stomach, and small intestine (PubMed:11318603).
Cellular localization
- Cytoplasm
- Myofibril
- Sarcomere
- Cytoplasm
- Cytoskeleton
- Colocalizes with actin filaments in sarcomeres.
Alternative names
Leiomodin-1, 64 kDa autoantigen 1D, 64 kDa autoantigen 1D3, 64 kDa autoantigen D1, Smooth muscle leiomodin, Thyroid-associated ophthalmopathy autoantigen, SM-Lmod, LMOD1