ALS2CR2

Ideogram human chromosome 2

ALS2CR2

ALS2CR2 is a gene that encodes the Alsin Rho guanine nucleotide exchange factor 2 protein in humans. This gene is located on chromosome 2 and plays a role in the regulation of small GTPases, which are important for various cellular processes.

Function

The protein encoded by ALS2CR2 is involved in the activation of Rho GTPases, which are key regulators of cell migration, proliferation, and cytoskeletal dynamics. By acting as a guanine nucleotide exchange factor, ALS2CR2 helps to facilitate the exchange of GDP for GTP on Rho GTPases, leading to their activation and downstream signaling.

Clinical Significance

Mutations in the ALS2CR2 gene have been associated with certain neurological disorders, including amyotrophic lateral sclerosis (ALS) and hereditary spastic paraplegia. These mutations can disrupt the normal function of the protein and impact cellular processes that are crucial for neuronal health and function.

Interactions

The protein encoded by ALS2CR2 has been shown to interact with various other proteins involved in signaling pathways and cytoskeletal organization. These interactions contribute to the regulatory role of ALS2CR2 in Rho GTPase activation and downstream signaling cascades.