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: 145226
MIM: 608830
HGNC: 19977
Ensembl: ENSG00000139988
Variants:
dbSNP: 145226
ClinVar: 145226
TCGA: ENSG00000139988
COSMIC: RDH12
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000139988 | ENST00000267502 | Q96NR8 |
| ENSG00000139988 | ENST00000267502 | A0A0S2Z613 |
| ENSG00000139988 | ENST00000551171 | Q96NR8 |
| ENSG00000139988 | ENST00000551171 | A0A0S2Z613 |
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37714431 | 2024 | Clinical and Genetic Characterization of RDH12-Retinal Dystrophy in a South American Cohort. | 1 |
| 37714431 | 2024 | Clinical and Genetic Characterization of RDH12-Retinal Dystrophy in a South American Cohort. | 1 |
| 36690427 | 2023 | Pseudocoloboma-like maculopathy with biallelic RDH12 missense mutations. | 1 |
| 36690427 | 2023 | Pseudocoloboma-like maculopathy with biallelic RDH12 missense mutations. | 1 |
| 35006499 | 2022 | Associations Between Fundus Types and Clinical Manifestations in Patients with RDH12 Gene Mutations. | 3 |
| 35994252 | 2022 | Clinical and Genetic Analysis of RDH12-Associated Retinopathy in 27 Chinese Families: A Hypomorphic Allele Leads to Cone-Rod Dystrophy. | 6 |
| 35006499 | 2022 | Associations Between Fundus Types and Clinical Manifestations in Patients with RDH12 Gene Mutations. | 3 |
| 35994252 | 2022 | Clinical and Genetic Analysis of RDH12-Associated Retinopathy in 27 Chinese Families: A Hypomorphic Allele Leads to Cone-Rod Dystrophy. | 6 |
| 33970760 | 2021 | Molecular genetics with clinical characteristics of Leber congenital amaurosis in the Han population of western China. | 5 |
| 34001834 | 2021 | ISOLATED MACULOPATHY AND MODERATE ROD-CONE DYSTROPHY REPRESENT THE MILDER END OF THE RDH12-RELATED RETINAL DYSTROPHY SPECTRUM. | 3 |
| 34216980 | 2021 | Generation of two human iPSC lines from patients with autosomal dominant retinitis pigmentosa (UCLi014-A) and autosomal recessive Leber congenital amaurosis (UCLi015-A), associated with RDH12 variants. | 1 |
| 34315337 | 2021 | Investigation of genotype-phenotype relationship in Turkish patients with inherited retinal disease by next generation sequencing. | 2 |
| 34445569 | 2021 | Involvement of Oxidative and Endoplasmic Reticulum Stress in RDH12-Related Retinopathies. | 8 |
| 33970760 | 2021 | Molecular genetics with clinical characteristics of Leber congenital amaurosis in the Han population of western China. | 5 |
| 34001834 | 2021 | ISOLATED MACULOPATHY AND MODERATE ROD-CONE DYSTROPHY REPRESENT THE MILDER END OF THE RDH12-RELATED RETINAL DYSTROPHY SPECTRUM. | 3 |
Citation
Dessen P
RDH12 (retinol dehydrogenase 12)
Atlas Genet Cytogenet Oncol Haematol. 2015-02-01
Online version: http://atlasgeneticsoncology.org/gene/55050/rdh12-(retinol-dehydrogenase-12)
