ACTBL2
Actin-Binding LIM Protein 2 (ACTBL2)
Description:
ACTBL2 is a protein encoded by the ACTBL2 gene in humans. It belongs to the LIM protein family, which is characterized by the presence of two LIM domains. LIM domains are protein-protein interaction motifs that facilitate the assembly of multi-protein complexes. ACTBL2 interacts with actin filaments and plays a role in cytoskeletal organization and dynamics. It is expressed in various tissues, including skeletal muscle, heart, and brain.
Associated Diseases:
mutations in the ACTBL2 gene have been linked to several human diseases:
- Familial Hypertrophic Cardiomyopathy (FHC): Mutations in ACTBL2 are the most prevalent cause of FHC, a condition characterized by abnormal thickening of the heart muscle.
- Dilated Cardiomyopathy (DCM): ACTBL2 mutations have also been associated with DCM, a condition leading to the enlargement and weakening of the heart muscle.
- Skeletal Muscle Disease: Mutations in ACTBL2 can result in muscle weakness, atrophy, and impaired mobility.
- Neurodevelopmental Disorders: ACTBL2 mutations have been linked to intellectual disability, autism spectrum disorder, and epilepsy.
Did you Know ?
Approximately 1 in 500 individuals are carriers of an ACTBL2 mutation linked to FHC, making it one of the most common inherited causes of the condition.
