TMEM123
Description
The TMEM123 (transmembrane protein 123) is a protein-coding gene located on chromosome 11.
TMEM123 encodes a highly glycosylated transmembrane protein with a high content of threonine and serine residues in its extracellular domain, similar to mucins. Exposure to anti-PORIMIN antibodies can crosslink this protein on the cell surface, inducing oncosis, a type of cell death characterized by loss of cell membrane integrity without DNA fragmentation. TMEM123 is proposed to function as a cell surface receptor mediating cell death.
TMEM123 is implicated in oncotic cell death, a process characterized by cell swelling, organelle swelling, vacuolization, and increased membrane permeability.
TMEM123 is also known as KCT3, PORIMIN, PORMIN.
Associated Diseases
- cancer
- Alzheimer disease
- Duchenne muscular dystrophy
- systemic lupus erythematosus
- autosomal dominant Emery-Dreifuss muscular dystrophy
