Coiled-coil domain-containing protein 91 (CCDC91)

Coiled-coil domain-containing protein 91 (CCDC91) is a cytosolic protein important for the regulation of vesicular transport, particularly from the Golgi apparatus to lysosomes. It interacts with Golgi-localized, gamma ear-containing, ADP-ribosylation factor–binding proteins (GGAs), functioning in hydrolase sorting and vesicle formation within the trans-Golgi network. CCDC91 is crucial for cellular trafficking, and recent research shows it plays a central role in the transport of elastin, specifically influencing the secretion and assembly of elastic fibers in the extracellular matrix. Loss-of-function mutations lead to intracellular accumulation of tropoelastin and altered Golgi morphology, and have been implicated in the autosomal-dominant skin disease acrokeratoelastoidosis (AKE), characterized by abnormal elastic fiber distribution and keratotic papules. CCDC91 is not currently recognized as a direct therapeutic target, receptor, enzyme, or transporter, but its role in vesicle trafficking and disease association supports its relevance to Golgi apparatus–associated pathologies.

Other names

GGABPHSD8p56FLJ11088DKFZp779L1558GGA-binding partnerp56 accessory proteincoiled-coil domain containing 91