RABGEF1
Description
The RABGEF1 (RAB guanine nucleotide exchange factor 1) is a protein-coding gene located on chromosome 7.
RABGEF1 is a protein encoded by the RABGEF1 gene in humans. It forms a complex with rabaptin-5 (RABPT5), which is essential for endocytic membrane fusion. RABGEF1 acts as a specific guanine nucleotide exchange factor for RAB5 (RAB5A), facilitating its activation.
RABGEF1 is also known as RABEX5, RAP1, rabex-5.
Associated Diseases
- Parkinson disease
- hyper-IgE recurrent infection syndrome 5, autosomal recessive
- immunodeficiency 18
- epidermolytic palmoplantar keratoderma
- immunodeficiency 25
- dermatitis
