SYNJ2BP-COX16 readthrough (SYNJ2BP-COX16)

SYNJ2BP-COX16 readthrough is a naturally occurring transcript fusion between the neighboring SYNJ2BP (synaptojanin 2 binding protein) and COX16 (COX16 cytochrome c oxidase assembly homolog) genes on chromosome 14. The readthrough produces a fusion protein sharing sequence identity with each individual gene product, with multiple isoforms generated through alternate splicing. This fusion protein has been reported as a key factor in maintaining mitochondrial homeostasis in dopaminergic neurons, and its downregulation or dysfunction can disrupt mitochondrial integrity, potentially contributing to disease phenotypes. It is not recognized as a canonical therapeutic target (such as a receptor, enzyme, transporter, etc.), and there is no evidence for interacting drugs, mechanisms of action for therapeutics, biomarker use, or safety concerns directly related to the SYNJ2BP-COX16 fusion protein[3][5][1]. Key caveat: This entity is not a standard therapeutic target but a special case of a readthrough/fusion product between two neighboring protein-coding genes. Most knowledge databases treat SYNJ2BP and COX16 separately as targets, and refer to the readthrough as a locus/protein coding transcript, not as a therapeutic target[3][1][5].

Other names

SYNJ2BP-COX16 proteinSYNJ2BP-COX16