RDH16: Retinol Dehydrogenase 16
A key enzyme in retinol metabolism and visual cycle
Gene Information Card
| Symbol | RDH16 |
|---|---|
| Full Name | Retinol Dehydrogenase 16 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q13.3 |
| NCBI Gene ID | 8608 ncbi.nlm.nih.gov/gene/8608 |
| Ensembl ID | ENSG00000111276 |
| UniProt ID | O75452 |
| OMIM ID | 601763 |
| HGNC ID | 9969 |
| Aliases | RODH-4, RODH4, SDR9C8 |
Description
RDH16 (retinol dehydrogenase 16) is a member of the short-chain dehydrogenase/reductase (SDR) family. It encodes an enzyme that catalyzes the oxidation of retinol (vitamin A) to retinaldehyde, a critical step in retinoic acid biosynthesis and the visual cycle. The gene is primarily expressed in the liver and plays a role in retinoid metabolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis pigmentosa | Impaired retinol oxidation in the visual cycle may contribute to retinal degeneration | Limited direct evidence; inferred from pathway involvement |
| Liver cancer | Altered retinol metabolism may affect cell differentiation and proliferation | Expression changes observed in hepatocellular carcinoma (COSMIC) |
| Vitamin A deficiency disorders | Reduced RDH16 activity may impair retinoic acid synthesis | Indirect based on biochemical function |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 2.1 | Low |
| Testis | 1.8 | Low |
| Adrenal gland | 1.2 | Low |
| Small intestine | 0.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 8.3 | Liver cancer cell line |
| HEK293 | 0.5 | Low expression |
| HeLa | 0.2 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | Rare | Unknown functional effect |
| c.374C>T | Missense | Rare | p.Thr125Met; possibly damaging (in silico) |
| c.586G>A | Missense | Rare | p.Gly196Ser; uncertain significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No gain-of-function mutations documented.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • retinol dehydrogenase activity (GO:0004745) | • retinoid metabolic process (GO:0001523) |
| • visual perception (GO:0007601) | • oxidation-reduction process (GO:0055114) |
| • oxidoreductase activity (GO:0016491) |
Pathways
• Retinol metabolism (KEGG: hsa00830)
• Metabolic pathways (KEGG: hsa01100)
• Visual cycle (Reactome: R-HSA-2453902)
Protein Summary
RDH16 is a 317-amino acid protein belonging to the short-chain dehydrogenase/reductase family. It functions as a retinol dehydrogenase, converting retinol to retinaldehyde using NADP+ as a cofactor. The protein is predominantly expressed in the liver and is involved in retinoid metabolism and the visual cycle. Structural analysis indicates a typical SDR fold with a Rossmann fold for cofactor binding.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RDH16 Knockout HEK293 Cell Line | EDJ-KQ6304 | Human | 8608 | Details Get a Quote |
| RDH16 Knockout HeLa Cell Line | EDJ-KQ54951 | Human | 8608 | Details Get a Quote |
| RDH16 Knockout A-549 Cell Line | EDJ-KQ63436 | Human | 8608 | Details Get a Quote |
| RDH16 Knockout HCT 116 Cell Line | EDJ-KQ71903 | Human | 8608 | Details Get a Quote |
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