GDI2
Description
The GDI2 (GDP dissociation inhibitor 2) is a protein-coding gene located on chromosome 10.
GDI2 is a human gene that encodes Rab GDP dissociation inhibitor beta, a protein that regulates the activity of Rab proteins. Rab proteins are small GTP-binding proteins involved in vesicular trafficking between cellular organelles. GDI2 slows down the rate of GDP dissociation from Rab proteins, effectively releasing GDP from membrane-bound Rabs. GDI2 is expressed throughout the body and its gene contains repetitive elements, potentially leading to inversions or deletions in its sequence.
GDI2 is also known as HEL-S-46e, RABGDIB.
Associated Diseases
- systemic lupus erythematosus
- retinitis pigmentosa
- isolated ectopia lentis
- snowflake vitreoretinal degeneration
- X-linked retinoschisis
- X-linked retinal dysplasia
