2 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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20PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
lipid homeostasismitochondrionmitochondrial outer membraneidiopathic pulmonary fibrosisatrial fibrillationatrial fluttertransient myeloproliferative syndrome
Based on limited published evidence, CCDC127 regulates lipid droplet homeostasis through mitochondria-ER contact sites (MERCS) enhancement 1. The protein localizes to the mitochondrial outer membrane and promotes mitochondrial fragmentation while stabilizing the MERCS tether protein VAPA, thereby controlling lipid droplet abundance 1. CCDC127 supports adipocyte differentiation in mesenchymal stem cells 1. Additionally, CCDC127 acts as a transcriptional suppressor of heat shock protein 70 (Hsp70) gene expression 2. The full scope of its cellular functions remains incompletely characterized.
1
CCDC127 regulates lipid droplet homeostasis by enhancing mitochondria-ER contacts, localizes to mitochondrial outer membrane, promotes mitochondrial fragmentation, stabilizes VAPA, and is required for adipocyte differentiation
PMID: 378649242
CCDC127 suppresses Hsp70 promoter activation and hsp70 gene expression in stress signaling
PMID: 26873636⚠Limited data available — This gene has 2 indexed publications. Summary and analysis may be incomplete.
idiopathic pulmonary fibrosisOpen Targets
atrial fibrillationOpen Targets
atrial flutterOpen Targets
transient myeloproliferative syndromeOpen Targets
neutrophil immunodeficiency syndromeOpen Targets
liver diseaseOpen Targets
DNA methylationOpen Targets
essential hypertensionOpen Targets
Leigh syndromeOpen Targets
mitochondrial complex II deficiency, nuclear type 1Open Targets
pheochromocytomaOpen Targets
systemic juvenile idiopathic arthritisOpen Targets
esophageal squamous cell carcinomaOpen Targets
cholangiocarcinomaOpen Targets
esophageal cancerOpen Targets
urinary bladder cancerOpen Targets
uterine corpus endometrial carcinomaOpen Targets
No pathogenic variants reported on ClinVar for this gene.