SAG

The C-terminus interferes with binding to non-phosphorylated RHO. Interaction with phosphorylated RHO triggers displacement of the C-terminus and leads to a conformation change that mediates high-affinity RHO binding.

Binds to photoactivated, phosphorylated RHO and terminates RHO signaling via G-proteins by competing with G-proteins for the same binding site on RHO (By similarity). May play a role in preventing light-dependent degeneration of retinal photoreceptor cells (PubMed:9565049).

Night blindness, congenital stationary, Oguchi type 1

CSNBO1

A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia. Congenital stationary night blindness Oguchi type is an autosomal recessive form associated with fundus discoloration and abnormally slow dark adaptation.

None

The disease is caused by variants affecting the gene represented in this entry.

Retinitis pigmentosa 47

RP47

A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.

None

The disease is caused by variants affecting the gene represented in this entry.

Retinitis pigmentosa 96

RP96

An autosomal dominant form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field.

None

The disease is caused by variants affecting the gene represented in this entry.

Belongs to the arrestin family.

Detected in retina, in the proximal portion of the outer segment of rod photoreceptor cells (at protein level).

• Cell projection
• Cilium
• Photoreceptor outer segment
• Membrane
• Peripheral membrane protein
• Highly expressed in photoreceptor outer segments in light-exposed retina. Evenly distributed throughout rod photoreceptor cells in dark-adapted retina (By similarity). Predominantly dectected at the proximal region of photoreceptor outer segments, near disk membranes (PubMed:3720866).

S-arrestin, 48 kDa protein, Retinal S-antigen, Rod photoreceptor arrestin, S-AG, SAG

• entrezGene:6295
• omim:181031
• swissprot:P10523

Proteins

Neuroscience

45120Da