Calcium channel flower domain-containing protein 1 (CACFD1)

Calcium channel flower domain-containing protein 1 (CACFD1) is a transmembrane protein encoded by the CACFD1 gene in humans. It is predicted to function in vesicle-mediated transport and is located in several cellular components including the Golgi apparatus, cytoplasmic vesicles, and the endoplasmic reticulum membrane. CACFD1 mediates synaptic endocytosis and participates in fitness-based cell culling, where its isoforms help identify and eliminate unfit cells via apoptosis as part of tissue maintenance. In neuronal cells, it regulates two synaptic vesicle retrieval modes: clathrin-mediated endocytosis upon mild stimulation and activity-dependent bulk endocytosis during strong stimulation. In immune cells, specifically cytotoxic T-lymphocytes, it facilitates calcium-dependent endocytosis of cytotoxic granules at the immunological synapse. The gene has been associated with diseases such as frontotemporal dementia, amyotrophic lateral sclerosis, and hyperphenylalaninemia[1][6][7]. No evidence was found that CACFD1 is a direct therapeutic target (receptor, enzyme, transporter, drug target), nor is there information on drugs, biomarkers, or major safety concerns directly related to this protein as of the latest data[1][6][7].

Other names

C9orf7D9S2135FlowerCalcium channel flower homologPSEC0107PSEC0248UNQ3071/PRO9903FLOWER