KIAA1715
Title: KIAA1715: An Emerging Gene Implicated in Human Health and Disease
Description
KIAA1715 (KIAA1715), also known as TNNI3K, is a gene that encodes a protein involved in the regulation of skeletal muscle function. It is located on chromosome 19q13.42 in humans. KIAA1715 plays a crucial role in maintaining muscle integrity and function, and mutations in this gene have been associated with several neuromuscular disorders.
Associated Diseases
Mutations in the KIAA1715 gene have been linked to a range of neuromuscular disorders, including:
- Nemaline myopathy type 2 (NM2): A rare muscle disorder characterized by muscle weakness and delayed motor development.
- Thin filament myopathy (TFM): A mild muscle disorder that affects the structure of muscle fibers.
- Congenital myasthenic syndrome (CMS): A group of rare genetic disorders that affect the transmission of signals between nerves and muscles.
- Distal myopathy with rimmed vacuoles (DMRV): A muscle disorder characterized by muscle weakness and atrophy in the distal limbs.
Did you Know ?
Approximately 1 in 50,000 people worldwide are affected by NM2, the most common disorder associated with KIAA1715 mutations.
