KIAA1257
KIAA1257: An Enigmatic Protein with Clinical Implications
Description
KIAA1257, also known as RNF115 (Ring Finger Protein 115), is a protein that plays a multifaceted role in various cellular processes, including RNA metabolism, viral replication, and signal transduction. It is a large protein composed of 3,100 amino acids and contains several functional domains, such as a RING finger, a coiled-coil domain, and an RNA recognition motif.
Associated Diseases
KIAA1257 has been implicated in the pathogenesis of several diseases, including:
- Amyotrophic lateral sclerosis (ALS): Mutations in the KIAA1257 gene have been linked to familial ALS, an inherited form of motor neuron disease characterized by progressive muscle weakness and paralysis.
- Frontotemporal dementia (FTD): KIAA1257 mutations have also been associated with FTD, a neurodegenerative disorder that affects the frontal and temporal lobes of the brain, resulting in changes in behavior, language, and memory.
- Autism spectrum disorder (ASD): Studies have suggested an association between KIAA1257 variants and an increased risk of ASD, a neurodevelopmental condition characterized by social and communication difficulties.
- Viral infections: KIAA1257 has been shown to interact with viral proteins and modulate viral replication. For example, it has been found to inhibit HIV-1 replication by interfering with the viral Gag protein.
Did you Know ?
Mutations in the KIAA1257 gene account for approximately 5-10% of familial ALS cases.
