HNRNPA1

HNRNPA1, also known as heterogeneous nuclear ribonucleoprotein A1, is a protein encoded by the HNRNPA1 gene in humans. This gene is located on chromosome 12. HNRNPA1 is a multifunctional protein belonging to the hnRNP family, which are involved in various aspects of RNA processing and metabolism. It plays a crucial role in pre-mRNA splicing, mRNA transport, and translation. The protein is known to bind to single-stranded RNA, and its activity is often regulated by its phosphorylation state.

HNRNPA1 is highly abundant in the nucleus but can also be found in the cytoplasm. Its involvement in RNA metabolism makes it a key player in gene expression regulation. Aberrant expression or mutations in HNRNPA1 have been linked to several diseases. Most notably, it is implicated in neurodegenerative disorders such as amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Specific mutations in the HNRNPA1 gene have been identified in familial cases of these conditions, suggesting a direct causal role. Research is ongoing to fully understand the precise mechanisms by which HNRNPA1 dysfunction contributes to neurodegeneration.