Aliases for REEP6 Gene
External Ids for REEP6 Gene
Previous HGNC Symbols for REEP6 Gene
Previous GeneCards Identifiers for REEP6 Gene
The protein encoded by this gene may be involved in the transport of receptors from the endoplasmic reticulum (ER) to the cell surface. The encoded protein may also play a role in regulating ER membrane structure. This gene is required for the proper development of retinal rods and photoreceptors, with defects in this gene being associated with retinitis pigmentosa 77. [provided by RefSeq, May 2017]
GeneCards Summary for REEP6 Gene
REEP6 (Receptor Accessory Protein 6) is a Protein Coding gene. Diseases associated with REEP6 include Retinitis Pigmentosa 77 and Retinitis Pigmentosa. Among its related pathways are Signaling by GPCR and Olfactory transduction. An important paralog of this gene is REEP5.
UniProtKB/Swiss-Prot Summary for REEP6 Gene
Required for correct function and survival of retinal photoreceptors (PubMed:27889058). Required for retinal development (By similarity). In rod photoreceptors, facilitates stability and/or trafficking of guanylate cyclases and is required to maintain endoplasmic reticulum and mitochondrial homeostasis (By similarity). May play a role in clathrin-coated intracellular vesicle trafficking of proteins from the endoplasmic reticulum to the retinal rod plasma membrane (By similarity).