ARHGEF33
Description
The ARHGEF33 (Rho guanine nucleotide exchange factor 33) is a protein-coding gene located on chromosome 2.
ARHGEF33 is a human gene that encodes a Rho guanine nucleotide exchange factor (GEF). GEFs are proteins that activate Rho GTPases, a family of small GTPases involved in a variety of cellular processes, including cell migration, cytoskeletal organization, and signal transduction. ARHGEF33 specifically interacts with Rho GTPases, acting as a guanine-nucleotide releasing factor. This means that it promotes the exchange of GDP for GTP on Rho GTPases, leading to their activation. The exact role of ARHGEF33 in cellular processes is not fully understood, but it is likely to be involved in regulating a variety of cellular functions related to Rho GTPase activity.
ARHGEF33 is involved in the regulation of Rho GTPases, acting as a guanine-nucleotide releasing factor.
ARHGEF33 is also known as -.
Associated Diseases
- torsion dystonia 2
- spinocerebellar ataxia type 20
- X-linked dystonia-parkinsonism
- infantile-onset generalized dyskinesia with orofacial involvement
- dystonia 16
- schizophrenia 15
- spinocerebellar ataxia type 15/16
- Huntington disease-like syndrome due to C9ORF72 expansions
- dystonia 23
- FRAXE intellectual disability
- Brunner syndrome
