CCDC115 Proteins

Protein Information

The CCDC115 gene encodes a protein known as coiled-coil domain-containing protein 115, which is involved in cellular processes related to membrane trafficking and Golgi apparatus function. CCDC115 is integral to maintaining Golgi homeostasis and is implicated in the functioning of the vacuolar H+-ATPase (V-ATPase) proton pump, critical for acidifying intracellular compartments. Mutations in CCDC115 have been associated with a genetic condition known as congenital disorder of glycosylation type IIo (CDG-IIo), which leads to defects in protein glycosylation. This disorder results in a spectrum of symptoms, including developmental delays, neurological impairments, and multi-systemic dysfunction due to improper glycosylation of proteins, impacting their stability and function. Research indicates that CCDC115's activity in ion transport and vacuolar acidification is essential for Golgi apparatus function and overall cellular homeostasis. Investigations into CCDC115 are crucial for understanding its role in glycosylation-related disorders and for developing potential therapeutic strategies to manage these conditions.

Synonyms

2310061I09Rik; Ccdc115; Ccp1; CDG2O; coiled-coil domain containing 115; coiled-coil domain-containing protein 115; Coiled-coil protein 1; RGD1304653