SMTN
Description
The SMTN (smoothelin) is a protein-coding gene located on chromosome 22.
Smoothelin, encoded by the SMTN gene, is a structural protein exclusively found in contractile smooth muscle cells. It interacts with stress fibers and contributes to the cytoskeleton's structure. Located on chromosome 22q12.3, this gene exhibits alternative splicing, leading to three different transcript variants.
SMTN is also known as -.
Associated Diseases
- dilated cardiomyopathy 1I
- familial visceral myopathy
- congenital aortic valve stenosis
- cardiomyopathy, familial restrictive, 3
- arterial calcification, generalized, of infancy, 2
- megacystis-microcolon-intestinal hypoperistalsis syndrome
- inflammatory bowel disease 30
- pulmonary hypertension, primary, 1
- ATTRV122I amyloidosis
- Mungan syndrome
- hypertrophic cardiomyopathy 4
- microvillus inclusion disease
- aortic arch interruption
