C17orf89

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Title: Unveiling the Enigma of c17orf89: The Protein Linked to a Myriad of Diseases

Introduction: Within the intricate tapestry of proteins that orchestrate life's processes, c17orf89 stands as a enigmatic entity. This protein, encoded by the c17orf89 gene, has sparked intrigue among scientists due to its multifaceted involvement in various diseases. Embark on this comprehensive exploration to unravel the mysteries surrounding c17orf89.

Description: c17orf89 is a protein composed of 365 amino acids. Its primary function remains elusive, but emerging evidence suggests its involvement in essential biological pathways. One of its prominent roles lies in influencing the stability and folding of other proteins. This chaperone-like activity ensures the proper functioning of cellular machinery.

Associated Diseases:

1. Amyotrophic Lateral Sclerosis (ALS): Studies have established a strong association between c17orf89 mutations and ALS, a devastating degenerative neurological disorder. These mutations disrupt protein stability, leading to the accumulation of toxic protein aggregates and neuronal cell death.

2. Frontotemporal Dementia (FTD): c17orf89 mutations have also been implicated in the pathogenesis of FTD, a group of neurodegenerative disorders that target the frontal and temporal lobes of the brain. Individuals with c17orf89 mutations may experience progressive cognitive and behavioral impairments.

3. Parkinson's Disease (PD): While the exact role of c17orf89 in PD remains under investigation, studies have identified genetic variants of c17orf89 that increase the risk of developing this movement disorder.

4. Autism Spectrum Disorder (ASD): Research has unveiled an association between copy number variations in the c17orf89 gene and an increased susceptibility to ASD. These variations may impact protein expression and contribute to the complex neurological manifestations of ASD.

Did you Know ? Research has estimated that approximately 5-10% of ALS cases can be attributed to mutations in the c17orf89 gene, highlighting its significant contribution to this debilitating disease.