TNNC2

Function

Troponin is the central regulatory protein of striated muscle contraction. Tn consists of three components: Tn-I which is the inhibitor of actomyosin ATPase, Tn-T which contains the binding site for tropomyosin and Tn-C. The binding of calcium to Tn-C abolishes the inhibitory action of Tn on actin filaments.

Involvement in disease

Congenital myopathy 15

CMYO15

An autosomal dominant myopathy characterized by neonatal onset of hypotonia, muscle weakness, and respiratory muscle involvement resulting in severe respiratory insufficiency. The disorder improves over time, although forced vital capacity remains decreased. Other features include facial weakness, often with ptosis or external ophthalmoplegia, jaw or distal joint contractures, scoliosis, and osteopenia.

None

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

Sequence Similarities

Belongs to the troponin C family.

Alternative names

TNNC2

Database links

swissprot:P02585 entrezGene:7134 entrezGene:7125 swissprot:P63316 omim:191040 omim:191039