EXOC6


Description

The EXOC6 (exocyst complex component 6) is a protein-coding gene located on chromosome 10.

EXOC6 is a human gene that encodes a protein involved in the exocytosis process, which is the transport of cellular materials outside the cell. This protein shares similarity with the yeast protein SEC15, which is essential for vesicle transport from the Golgi apparatus to the cell surface in yeast. The protein encoded by EXOC6 is part of a multi-protein complex that is required for exocytosis. A portion of the EXOC6 gene is associated with a deletion that can lead to a genetic condition known as nonsyndromic optic nerve aplasia (ONA), which is an autosomal dominant disorder. This gene can produce multiple transcript variants through alternative splicing and the use of alternative promoters. A similar protein is encoded by a paralogous gene located on chromosome 2.

EXOC6 is a component of the exocyst complex, which plays a crucial role in the docking of exocytic vesicles with fusion sites on the plasma membrane. It collaborates with other proteins like RAB11A, RAB3IP, RAB8A, PARD3, PRKCI, ANXA2, CDC42, and DNMBP to facilitate the transcytosis of PODXL to the apical membrane initiation sites (AMIS), leading to the formation of the apical surface and lumenogenesis.

EXOC6 is also known as EXOC6A, SEC15, SEC15L, SEC15L1, SEC15L3, Sec15p.

Associated Diseases



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