Members of arrestin/beta-arrestin protein family are thought to participate in agonist-mediated desensitization of G-protein-coupled receptors and cause specific dampening of cellular responses to stimuli such as hormones, neurotransmitters, or sensory signals.

2024年12月25日 · SAG (S-Antigen Visual Arrestin) is a Protein Coding gene. Diseases associated with SAG include Oguchi Disease 1 and Retinitis Pigmentosa 47. Among its related pathways are Visual phototransduction and Olfactory Signaling Pathway. Gene Ontology (GO) annotations related to this gene include phosphoprotein binding and opsin binding.

2023年1月30日 · In a 15-year-old Pakistani girl with typical Oguchi disease, Waheed et al. (2012) identified homozygosity for a nonsense mutation in the SAG gene (E306X; 181031.0005) that was present in heterozygosity in her unaffected mother and 4 other unaffected relatives and was not found in a healthy control panel from the same population.

Eight families in a cohort of 300 adRP families, and four additional families, were found to have a novel heterozygous mutation in the SAG gene, c.440G>T; p.Cys147Phe. Patients exhibited symptoms of retinitis pigmentosa and none showed symptoms characteristic of Oguchi disease.

Title: A Novel Dominant Mutation in SAG, the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States. Macular dysfunction can occur in Oguchi disease with the 1147delA mutation in the SAG gene.

Arrestin /beta-arrestin 蛋白家族的成员被认为参与激动剂介导的 G 蛋白偶联受体脱敏，并导致细胞对激素、神经递质或感觉信号等刺激的反应发生特异性抑制。 S-arrestin，也称为 S-抗原，是一种主要的可溶性光感受器蛋白，参与光激活转导级联的脱敏。 它在视网膜和松果体中表达，并在体外抑制视紫红质与转导蛋白的偶联。 此外，S-arrestin 具有高度抗原性，能够诱发实验性自身免疫性葡萄膜视网膜炎。 该基因的突变与 Oguchi 病有关，Oguchi 病是一种罕见的常染色体隐性夜 …

We describe a case of Oguchi disease with unusual findings caused by a putative heterozygous mutation in the SAG gene. maintenance of low levels of the active monomer is the biological role of arrestin-1 self-association

2023年11月23日 · It is expressed in the retina and the pineal gland and inhibits coupling of rhodopsin to transducin in vitro. Additionally, S-arrestin is highly antigenic, and is capable of inducing experimental autoimmune uveoretinitis. Mutations in this gene have been associated with Oguchi disease, a rare autosomal recessive form of night blindness.

Members of arrestin/beta-arrestin protein family are thought to participate in agonist-mediated desensitization of G-protein-coupled receptors and cause specific dampening of cellular responses to stimuli such as hormones, neurotransmitters, or sensory signals.

Oguchi type 1 disease is an autosomal recessive condition caused by mutations in the arrestin ( SAG) gene (2q37.1) whose product is an intrinsic photoreceptor protein that participates in the recovery phase of light transduction.

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Oguchi disease is a rare autosomal recessive form of congenital quiescent night blindness. Oguchi disease has been found to be associated with gene mutations in SAG and GRK1, which are vital factors in the recovery phase of phototransduction after light stimuli. We report a case of Oguchi disease with novel heterozygous mutations in SAG.

It is expressed in the retina and the pineal gland and inhibits coupling of rhodopsin to transducin in vitro. Additionally, S-arrestin is highly antigenic, and is capable of inducing experimental autoimmune uveoretinitis. Mutations in this gene have been associated with Oguchi disease, a rare autosomal recessive form of night blindness.

Click on a disease name to see all genes associated with that disease. Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene. Click cells to view annotations. Mice homozygous for a knock-out allele exhibit abnormalities in retinal rod cell outer segment morphology and rod electrophysiology.

2010年10月21日 · Here, we show that a plasma membrane-localized MtN3 protein SAG29 regulates cell viability under high salinity in Arabidopsis. The SAG29 gene is expressed primarily in senescing plant tissues. It is induced by osmotic …

Members of arrestin/beta-arrestin protein family are thought to participate in agonist-mediated desensitization of G-protein-coupled receptors and cause specific dampening of cellular responses to stimuli such as hormones, neurotransmitters, or sensory signals.

2007年9月10日 · SAG (sensitive to apoptosis gene) or ROC2/RBX2 is the second family member of ROC1/RBX1, a component of SCF (Skp1, Cullin, F-box protein) and VCB (von Hippel–Lindau (VHL), Cullin and Elongin...

While we found several isolates that were up-regulated in late-passage cells, all appeared to be variants of the same cDNA, which we named senescence-associated gene (SAG). Our data show that SAG expression is threefold higher in senescent fibroblasts and closely parallels the progressive slowdown in growth potential, but is not cell-cycle ...

2020年1月11日 · In the present study, we revealed that SAG gene expression is upregulated in breast cancer cells and that SAG overexpression is associated with significant poorer survival in breast cancer, especially the luminal A subtype. We also detected highly correlated co-overexpression of SAG and COPB2 in breast cancers.

2023年3月28日 · SAG (sensitive to apoptosis gene) was cloned as an inducible gene by 1,10-phenanthroline (OP), a redox-sensitive compound and an apoptosis inducer. SAG encodes a novel zinc RING finger protein that consists of 113 amino acids with a