2 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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6PubMed Papers
13Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY✓ Swiss-Prot Reviewed
neurodegenerative diseasehypertriglyceridemia 2familial hypercholesterolemiaCombined hyperlipidemia
Based on limited published evidence, SYNJ2BP-COX16 is a fusion protein with roles in mitochondrial function and cell proliferation. In breast cancer, SUMOylation of SYNJ2BP-COX16 at K107 promotes mitochondrial fission through DRP1 recruitment, enhancing ATP production and COX activity to drive cancer cell proliferation and metastasis 1. Clinical studies suggest haploinsufficiency of SYNJ2BP-COX16 may contribute to congenital heart defects, intellectual disability, and brachydactyly in patients with 14q24.1q24.3 deletions 2, though specific molecular mechanisms remain unclear.
1
SUMOylation of SYNJ2BP-COX16 at K107 promotes breast cancer progression through DRP1-mediated mitochondrial fission and enhanced ATP production
PMID: 359987972
SYNJ2BP-COX16 haploinsufficiency may contribute to congenital heart defects, intellectual disability, and brachydactyly in chromosome 14q24.1q24.3 deletions
PMID: 24357125⚠Limited data available — This gene has 2 indexed publications. Summary and analysis may be incomplete.
neurodegenerative diseaseOpen Targets
hypertriglyceridemia 2Open Targets
familial hypercholesterolemiaOpen Targets
Combined hyperlipidemiaOpen Targets
thyroid hormone metabolism, abnormal, 2Open Targets
sitosterolemia 2Open Targets
homozygous familial hypercholesterolemiaOpen Targets
hypercholesterolemia, autosomal dominant, 3Open Targets
hyperlipidemia due to hepatic triglyceride lipase deficiencyOpen Targets
hypercholesterolemia, autosomal dominant, type BOpen Targets
pancreatic triacylglycerol lipase deficiencyOpen Targets
familial apolipoprotein C-II deficiencyOpen Targets
Hyperlipoproteinemia type 1Open Targets
No pathogenic variants reported on ClinVar for this gene.