SAG Antibody

1. This is the first dominant-acting mutation identified in SAG, a founder mutation possibly originating in Mexico several centuries ago. The phenotype is clearly adRP and is distinct from the previously reported phenotypes of recessive null mutations, that is, Oguchi disease and recessive RP. PMID: 28549094
2. Macular dysfunction can occur in Oguchi disease with the 1147delA mutation in the SAG gene. PMID: 21447990
3. Based on their observed affinity for arrestin-1, P-opsin and inactive P-Rh very likely affect the physiological monomer-dimer-tetramer equilibrium of arrestin-1, and should therefore be taken into account when modeling photoreceptor function. PMID: 23277586
4. Compound heterozygosity of a nonsense R193X mutation and a heterozygous deletion of 3,224 bp encompassing exon 2 in the SAG gene is the cause of Oguchi's disease in a Chinese family. PMID: 22419846
5. the arrestin 1147delA, which has been known as a frequent cause of Oguchi disease, also may be related to the pathogenesis of autosomal recessive RP. PMID: 21922265
6. We describe a case of Oguchi disease with unusual findings caused by a putative heterozygous mutation in the SAG gene. PMID: 21987685
7. maintenance of low levels of the active monomer is the biological role of arrestin-1 self-association PMID: 21288033
8. Rhodopsin-arrestin complexes alter the morphology of endosomal compartments and severely damage receptor-mediated endocytic functions in retinitis pigmentosa. PMID: 15232620
9. The existence of 2 novel mutations of the arrestin gene in 2 unrelated Japanese patients strongly supports the previous data that arrestin gene mutations are associated with Oguchi's disease PMID: 15234147
10. Mutation 926delA of the SAG gene is the main cause of Oguchi disease in Japanese. This mutation appears to have been inherited from a single founder. PMID: 15295660
11. The tetramer form of arrestin increases the arrestin-binding capacity of microtubules while readily dissociating to supply active monomer when it is needed to quench rhodopsin signaling. PMID: 17332750
12. ARRESTIN binds to different phosphorylated regions of the thyrotropin-releasing hormone receptor with distinct functional consequences. PMID: 18413662
13. S-Ag specific T cells are present in certain active Behcet's disease patients, and most of them are activated memory CD4(+) T cells. PMID: 18685727

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HGNC: 10521

OMIM: 181031

KEGG: hsa:6295

STRING: 9606.ENSP00000386444

UniGene: Hs.32721