SMEK2
SMECK2 Gene: The Master Regulator of Muscle Strength
Description
The SMECK2 gene is located on chromosome 19 and encodes the SMECK2 protein, a kinase that plays a crucial role in regulating muscle strength and function. SMECK2 is primarily expressed in skeletal muscle, where it modulates the activities of key proteins involved in muscle contraction and growth.
Associated Diseases
Mutations in the SMECK2 gene are linked to several rare genetic disorders that affect muscle function. These include:
- Distal arthrogryposis type 5 (DA5): A congenital condition characterized by joint stiffness (arthrogryposis) and muscle weakness in the hands and feet.
- Scapuloperoneal spinal muscular atrophy (SPSMA): A progressive muscle wasting disorder that affects the muscles of the shoulders, legs, and back.
- Congenital fiber-type disproportion (CFTD): A condition where muscle fibers are abnormally small or immature, leading to muscle weakness and delayed motor development.
Did you Know ?
Studies have shown that even minor variations in the SMECK2 gene can significantly impact muscle strength. For example, one study found that individuals with a specific SMECK2 variant had 10% greater isometric handgrip strength compared to those without the variant.
