Transcription factor SOX-7; Binds to and activates the CDH5 promoter, hence plays a role in the transcriptional regulation of genes expressed in the hemogenic endothelium and blocks further differentiation into blood precursors (By similarity). May be required for the survival of both hematopoietic and endothelial precursors during specification (By similarity). Competes with GATA4 for binding and activation of the FGF3 promoter (By similarity). Represses Wnt/beta-catenin-stimulated transcription, probably by targeting CTNNB1 to proteasomal degradation. Binds the DNA sequence 5'-AACAAT-3'.

Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha; This protein participates in processes of transmission and amplification of the visual signal; Belongs to the cyclic nucleotide phosphodiesterase family.

Protein C8orf37; May be involved in photoreceptor outer segment disk morphogenesis (By similarity).

Photoreceptor cilium actin regulator; Plays an essential role for normal photoreceptor cell maintenance and vision.

Protein eyes shut homolog; Required to maintain the integrity of photoreceptor cells. Specifically required for normal morphology of the photoreceptor ciliary pocket, and might thus facilitate protein trafficking between the photoreceptor inner and outer segments via the transition zone (By similarity); Belongs to the EYS family.

Peripherin-2; Essential for retina photoreceptor outer segment disk morphogenesis, may also play a role with ROM1 in the maintenance of outer segment disk structure (By similarity). Required for the maintenance of retinal outer nuclear layer thickness (By similarity). Required for the correct development and organization of the photoreceptor inner segment (By similarity). Belongs to the PRPH2/ROM1 family.

Rod outer segment membrane protein 1; Plays a role in rod outer segment (ROS) morphogenesis (By similarity). May play a role with PRPH2 in the maintenance of the structure of ROS curved disks (By similarity). Plays a role in the organization of the ROS and maintenance of ROS disk diameter (By similarity). Involved in the maintenance of the retina outer nuclear layer (By similarity).

X-linked retinitis pigmentosa GTPase regulator; Could be a guanine-nucleotide releasing factor. Plays a role in ciliogenesis. Probably regulates cilia formation by regulating actin stress filaments and cell contractility. Plays an important role in photoreceptor integrity. May play a critical role in spermatogenesis and in intraflagellar transport processes (By similarity). May be involved in microtubule organization and regulation of transport in primary cilia.

Retinal-specific phospholipid-transporting ATPase ABCA4; Catalyzes the translocation of specific phospholipids from the extracellular/lumenal to the cytoplasmic leaflet of membrane coupled to the hydrolysis of ATP. Transports preferentially phosphatidylethanolamine. In the visual cycle, acts as an inward-directed retinoid flipase, retinoid substrates imported by ABCA4 from the extracellular or intradiscal (rod) membrane surfaces to the cytoplasmic membrane surface are all- trans-retinaldehyde (ATR) and N-retinyl-phosphatidyl-ethanolamine (NR- PE). Once transported to the cytoplasmic su [...]