Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 6247
MIM: 300839
HGNC: 10457
Ensembl: ENSG00000102104
Variants:
dbSNP: 6247
ClinVar: 6247
TCGA: ENSG00000102104
COSMIC: RS1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000102104 | ENST00000379984 | O15537 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34645606 | 2023 | Clinical and genetic features of retinoschisis in 120 families with RS1 mutations. | 7 |
| 36402656 | 2023 | Advances in understanding the molecular structure of retinoschisin while questions remain of biological function. | 1 |
| 37317958 | 2023 | Identification and molecular characterization of two recurrent missense mutations in the RS1 gene in two families with X-linked retinoschisis from North India. | 2 |
| 37642422 | 2023 | Vitreous Hemorrhage in Pediatric Patients With X-Linked Retinoschisis: Characteristics and Outcomes. | 0 |
| 34645606 | 2023 | Clinical and genetic features of retinoschisis in 120 families with RS1 mutations. | 7 |
| 36402656 | 2023 | Advances in understanding the molecular structure of retinoschisin while questions remain of biological function. | 1 |
| 37317958 | 2023 | Identification and molecular characterization of two recurrent missense mutations in the RS1 gene in two families with X-linked retinoschisis from North India. | 2 |
| 37642422 | 2023 | Vitreous Hemorrhage in Pediatric Patients With X-Linked Retinoschisis: Characteristics and Outcomes. | 0 |
| 34624300 | 2022 | X-Linked Retinoschisis: Novel Clinical Observations and Genetic Spectrum in 340 Patients. | 17 |
| 35446970 | 2022 | [Analysis of RS1 gene variant in a Chinese pedigree affected with X-linked congenital retinal splitters]. | 0 |
| 36227606 | 2022 | Targeted Expression of Retinoschisin by Retinal Bipolar Cells in XLRS Promotes Resolution of Retinoschisis Cysts Sans RS1 From Photoreceptors. | 3 |
| 34624300 | 2022 | X-Linked Retinoschisis: Novel Clinical Observations and Genetic Spectrum in 340 Patients. | 17 |
| 35446970 | 2022 | [Analysis of RS1 gene variant in a Chinese pedigree affected with X-linked congenital retinal splitters]. | 0 |
| 36227606 | 2022 | Targeted Expression of Retinoschisin by Retinal Bipolar Cells in XLRS Promotes Resolution of Retinoschisis Cysts Sans RS1 From Photoreceptors. | 3 |
| 34223802 | 2021 | Spontaneous resolution of schitic cavities in XLRS. | 0 |
Citation
Dessen P
RS1 (retinoschisin 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/72900/rs1-(retinoschisin-1)
