LOC440600
Topic: Loc440600
Description
Loc440600, also known as the PDZ domain-containing protein 6 (PDZD6), is a protein that plays a crucial role in various cellular processes, including cell adhesion, migration, and signal transduction. It is a member of the PDZ protein family, which is characterized by a conserved protein-protein interaction domain that binds to the C-terminal motifs of other proteins. Loc440600 is widely expressed in various tissues, with particularly high levels in the brain, heart, and skeletal muscle.
Associated Diseases
Mutations in the LOC440600 gene have been linked to several human diseases, including:
- Intellectual Disability: Mutations in LOC440600 have been associated with intellectual disability, developmental delay, and autism spectrum disorder. These mutations often affect the PDZ domain of the protein, impairing its ability to interact with other proteins.
- Cardiomyopathy: Mutations in LOC440600 have been found in patients with dilated cardiomyopathy, a condition characterized by an enlarged and weakened heart. These mutations may disrupt the role of LOC440600 in maintaining the structure and function of heart muscle cells.
- Skeletal Muscle Disorders: Mutations in LOC440600 have been associated with skeletal muscle diseases, such as myopathy and muscular dystrophy. These mutations may affect the protein's role in regulating muscle cell growth, contraction, and repair.
Did you Know ?
According to a recent study, mutations in the LOC440600 gene are estimated to occur in approximately 1 in 50,000 individuals worldwide. This makes LOC440600 mutations a rare cause of genetic disorders, but they can have significant clinical implications for affected individuals.
