RDH8 Gene Summary [Human]

This gene encodes a member of the short-chain dehydrogenase/reductase family. The encoded protein catalyzes the reduction of all-trans-retinal to all-trans-retinol, the first reaction step of the rhodopsin regeneration pathway. This enzymatic reaction is the rate-limiting step in the visual cycle. [provided by RefSeq, Feb 2014]

Details

Type
Protein Coding
Official Symbol
RDH8
Official Name
retinol dehydrogenase 8 [Source:HGNC Symbol;Acc:HGNC:14423]
Ensembl ID
ENSG00000080511
Bio databases IDs NCBI: 50700 Ensembl: ENSG00000080511
Aliases retinol dehydrogenase 8, short chain dehydrogenase/reductase family 28C, member 2
Synonyms Gm182, LOC687099, PRRDH, Retinol dehydrogenase 8, SDR28C2
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human RDH8 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • NADP-retinol dehydrogenase
  • Rossmann-fold NAD(P)(+)-binding proteins
  • sepiapterin reductase
  • retinol dehydrogenase
  • pteridine reductase
  • enzyme
  • Enoyl-(Acyl carrier protein) reductase
  • short chain dehydrogenase

Pathways

Biological processes and signaling networks where the RDH8 gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • retinopathy
  • choroidal neovascularization
  • cone-rod dystrophy
  • retinal degeneration
  • systemic lupus erythematosus
regulated by
  • mir-122 (includes others)
regulates
role in cell
  • activation
  • abnormal morphology
  • invasion
  • number
  • electrophysiology
  • ferroptosis

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Plasma Membrane

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human RDH8 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • estrogen biosynthetic process
  • retinol metabolic process
  • steroid biosynthetic process
  • visual perception

Cellular Component

Where in the cell the gene product is active
  • cytosol
  • plasma membrane

Molecular Function

What the gene product does at the molecular level
  • estradiol 17-beta-dehydrogenase activity
  • retinol dehydrogenase activity
  • NADP-retinol dehydrogenase activity

Gene-Specific Assays for Results You Can Trust

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