REEP6


Description

The REEP6 (receptor accessory protein 6) is a protein-coding gene located on chromosome 19.

REEP6 is essential for the proper functioning and survival of retinal photoreceptor cells. It is also required for the development of the retina. In rod photoreceptors, REEP6 helps to stabilize and/or transport guanylate cyclases, and it is needed to maintain the health of the endoplasmic reticulum and mitochondria. REEP6 may also play a role in the movement of proteins from the endoplasmic reticulum to the plasma membrane of retinal rod cells within clathrin-coated vesicles.

REEP6 is also known as C19orf32, DP1L1, REEP6.1, REEP6.2, RP77, TB1, TB2L1, Yip2f.

Associated Diseases


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