| Type | Description |
|---|---|
| Definition | retinol dehydrogenase 5 |
| Date | Results | Publications |
|---|---|---|
| 2021-03-13 13:16:00 | A founder RDH5 splice site mutation leads to retinitis punctata albescens in two inbred Pakistani kindreds. | 31933420 |
| 2020-07-11 10:04:00 | Multimodal imaging and electroretinography of RDH5-related fundus albipunctatus (FAP) revealed high frequencies of macular involvement in older patients and decreased cone responses. | 32232344 |
| 2018-11-03 11:16:00 | a novel homozygous missense mutation, (c.602 C > T) in exon 4 of the RDH5 gene (MIM: 601617) was identified. This mutation resulted in substitution of phenyl alanine for serine at amino acid 201 (p.Ser201Phe) of the RDH5 gene. Identification of this mutation reveals the allelic heterogeneity of RDH5 in patients with retinitis pigmentosa phenotype. | 29892959 |
| 2016-12-17 11:54:00 | We conclude that the expression of Rlbp1 and Rdh5 critically depends on functional Mitf in the RPE and suggest that MITF has an important role in controlling retinoid processing in the RPE. | 26876013 |
| 2015-08-29 10:49:00 | A novel c.832C>T (p.Arg278Ter) nonsense mutation in RDH5 was identified. Preserved rod function was observed in one young subject in this study. | 25170858 |
| Type | IDs |
|---|---|
| Synonymous | 9cRDH, HSD17B9, RDH1, SDR9C5 |
| Gene |
UniProtKB-ID:
RDH5_HUMAN,
A0A024RB18_HUMAN
UniprotKB:
Q92781,
A0A024RB18
UniParc:
UPI0000034C0B
EMBL:
U89717,
BC028298,
U43559,
CH471054,
AF037062
Ensembl:
ENSG00000135437
KO:
hsa:5959
|
| Nucleutide sequences |
EMBL-CDS:
AAC09250.1,
AAH28298.1,
AAC50725.1,
AAB93668.1,
EAW96826.1,
EAW96825.1
Gene_ORFName:
hCG_20748
Ensembl_TRS:
ENST00000548082,
ENST00000257895
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000447128,
ENSP00000257895
RefSeq:
NP_001186700.1,
NP_002896.2
|
| Others |
UniRef100:
UniRef100_Q92781
UniRef90:
UniRef90_Q92781
UniRef50:
UniRef50_Q92781
UniGene:
Hs.600940
CCDS:
CCDS31829.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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