PACSIN2
Description
The PACSIN2 (protein kinase C and casein kinase substrate in neurons 2) is a protein-coding gene located on chromosome 22.
PACSIN2, also known as Syndapin-2 or Syndapin-II, is a protein that in humans is encoded by the PACSIN2 gene. PACSIN2 is involved in the formation of caveolae. The variant rs2413739 in PACSIN2 has been associated with the activity of the enzyme thiopurine-methyltransferase during remission maintenance therapy of children with acute lymphoblastic leukemia and with the incidence of severe gastrointestinal adverse events during remission consolidation therapy of children with acute lymphoblastic leukemia, based mostly on the antimetabolites mercaptopurine and methotrexate. PACSIN2 has been shown to interact with Fas ligand, PACSIN1, and PACSIN3.
PACSIN2 regulates the formation and internalization of caveolae, small membrane invaginations that play important roles in cellular processes. It acts as a lipid-binding protein, facilitating the formation of tubules within membranes containing phosphatidic acid. PACSIN2 participates in intracellular vesicle transport, a critical pathway for the movement of materials within cells. It is involved in the endocytosis of cell-surface receptors, such as the EGF receptor, promoting their internalization even in the absence of the EGF signal.
PACSIN2 is also known as SDPII.
Associated Diseases
- myoepithelial tumor
- Brugada syndrome
- beta-thalassemia-X-linked thrombocytopenia syndrome
- familial atrial fibrillation
- hemoglobin D disease
- breast cancer
- alpha-thalassemia-myelodysplastic syndrome
