INF2
Description
The INF2 (inverted formin 2) is a protein-coding gene located on chromosome 14.
Inverted formin-2 is a protein encoded by the INF2 gene in humans. It belongs to the formin protein family and has two splice isoforms: CAAX, which localizes to the endoplasmic reticulum, and non-CAAX, which localizes to focal adhesions, the cytoplasm, and is enriched at the Golgi. INF2 plays a role in mitochondrial fission and dorsal stress fiber formation. It accelerates actin nucleation and elongation by interacting with barbed ends (fast-growing ends) of actin filaments but also accelerates disassembly of actin through encircling and severing filaments.
INF2 can be associated with Focal segmental glomerulosclerosis and Charcot-Marie Tooth Disease.
INF2 is also known as C14orf151, C14orf173, CMTDIE, FSGS5, pp9484.
Associated Diseases
- Charcot-Marie-Tooth disease, dominant intermediate E
- Genetic steroid-resistant nephrotic syndrome
- Glomerulosclerosis, focal segmental, 5
