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: 121214
MIM: 609769
HGNC: 29958
Ensembl: ENSG00000170426
Variants:
dbSNP: 121214
ClinVar: 121214
TCGA: ENSG00000170426
COSMIC: SDR9C7
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000170426 | ENST00000293502 | Q8NEX9 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Signal Transduction | REACTOME | R-HSA-162582 |
| Visual phototransduction | REACTOME | R-HSA-2187338 |
| The canonical retinoid cycle in rods (twilight vision) | REACTOME | R-HSA-2453902 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33422619 | 2021 | Knockdown of SDR9C7 Impairs Epidermal Barrier Function. | 3 |
| 33422619 | 2021 | Knockdown of SDR9C7 Impairs Epidermal Barrier Function. | 3 |
| 31953843 | 2020 | Next-generation sequencing through multi-gene panel testing for diagnosis of hereditary ichthyosis in Chinese. | 8 |
| 31953843 | 2020 | Next-generation sequencing through multi-gene panel testing for diagnosis of hereditary ichthyosis in Chinese. | 8 |
| 28906551 | 2018 | Identification of mutations in SDR9C7 in six families with autosomal recessive congenital ichthyosis. | 5 |
| 28906551 | 2018 | Identification of mutations in SDR9C7 in six families with autosomal recessive congenital ichthyosis. | 5 |
| 28369735 | 2017 | Whole-exome sequencing identified a novel frameshift mutation in SDR9C7 underlying autosomal recessive congenital ichthyosis in a Pakistani family. | 3 |
| 28369735 | 2017 | Whole-exome sequencing identified a novel frameshift mutation in SDR9C7 underlying autosomal recessive congenital ichthyosis in a Pakistani family. | 3 |
| 28173123 | 2016 | Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis. | 22 |
| 28173123 | 2016 | Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis. | 22 |
Citation
Dessen P
SDR9C7 (short chain dehydrogenase/reductase family 9C member 7)
Atlas Genet Cytogenet Oncol Haematol. 2013-08-01
Online version: http://atlasgeneticsoncology.org/gene/53488/sdr9c7-(short-chain-dehydrogenase-reductase-family-9c-member-7)
