CACFD1
Description
The CACFD1 (calcium channel flower domain containing 1) is a protein-coding gene located on chromosome 9.
CACFD1, also known as Calcium channel flower domain-containing protein 1, is a transmembrane protein involved in synaptic endocytosis and cell fitness determination. It regulates two primary modes of synaptic vesicle retrieval in hippocampal neurons: Clathrin-mediated endocytosis (CME) in response to mild stimuli and activity-dependent bulk endocytosis (ADBE) in response to strong stimuli. In cytotoxic T lymphocytes (CTLs), CACFD1 facilitates calcium-dependent endocytosis of cytotoxic granules at the immune synapse. Different isoforms of CACFD1 act as 'fitness fingerprints' in cells, distinguishing between 'loser' and 'winner' cells during cell competition, ultimately influencing cell survival or elimination via apoptosis.
CACFD1 is also known as C9orf7, D9S2135, FLOWER.
Associated Diseases
- thyroid gland adenocarcinoma
- hypertriglyceridemia 2
- cholesterol-ester transfer protein deficiency
- hyperlipidemia due to hepatic triglyceride lipase deficiency
- homozygous familial hypercholesterolemia
