GIT2
Description
The GIT2 (GIT ArfGAP 2) is a protein-coding gene located on chromosome 12.
GIT2 is an enzyme that plays a role in human cells. It belongs to the GIT protein family and interacts with G protein-coupled receptor kinases. GIT2 possesses ADP-ribosylation factor (ARF) GTPase-activating protein (GAP) activity. This gene undergoes extensive alternative splicing, resulting in various isoforms with functional differences. GIT2 interacts with other proteins, including GIT1.
GIT2 acts as a GTPase-activating protein for members of the ADP ribosylation factor family, including ARF1.
GIT2 is also known as CAT-2, CAT2, PKL.
Associated Diseases
- isolated agammaglobulinemia
- combined immunodeficiency due to ZAP70 deficiency
- schizophrenia
- common variable immunodeficiency
- immunodeficiency 72 with autoinflammation
- immunodeficiency 53
