• Gene id: 50700

Gene Summary

• Gene Symbol: RDH8   Gene   UCSC   Ensembl
• Aliases: PRRDH, SDR28C2
• Gene name: retinol dehydrogenase 8
• Alternate names: retinol dehydrogenase 8, photoreceptor outer segment all-trans retinol dehydrogenase, retinol dehydrogenase 8 (all-trans), short chain dehydrogenase/reductase family 28C member 2,
• Gene location: 19p13.2 (10013482: 10022278)     Exons: 6     NC_000019.10
• Gene summary(Entrez): 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
• OMIM: 605532

Protein Summary

• Protein general information: Q9NYR8  
  • Name: Retinol dehydrogenase 8 (EC 1.1.1.300) (Photoreceptor outer segment all trans retinol dehydrogenase) (Short chain dehydrogenase/reductase family 28C member 2)
  • Length: 311  
  • Mass: 33755
  • Tissue specificity: Detected in photoreceptor outer segments in the retina (at protein level). {ECO
• Sequence:

  MAAAPRTVLISGCSSGIGLELAVQLAHDPKKRYQVVATMRDLGKKETLEAAAGEALGQTLTVAQLDVCSDESVAQ
  CLSCIQGEVDVLVNNAGMGLVGPLEGLSLAAMQNVFDTNFFGAVRLVKAVLPGMKRRRQGHIVVISSVMGLQGVI
  FNDVYAASKFALEGFFESLAIQLLQFNIFISLVEPGPVVTEFEGKLLAQVSMAEFPGTDPETLHYFRDLYLPASR
  KLFCSVGQNPQDVVQAIVNVISSTRPPLRRQTNIRYSPLTTLKTVDSSGSLYVRTTHRLLFRCPRLLNLGLQCLS
  CGCLPTRVRPR

• Structural information:
  • Interpro: IPR011348  IPR036291  IPR020904  IPR002347  
  • Prosite: PS00061
  • STRING: ENSP00000466058
• Other Databases: GeneCards:  RDH8  Malacards:  RDH8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006703	estrogen biosynthetic process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0004303	estradiol 17-beta-dehydrogenase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0007601	visual perception	IEA	biological process
GO:0050896	response to stimulus	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0004745	retinol dehydrogenase activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0006694	steroid biosynthetic process	TAS	biological process
GO:0007601	visual perception	TAS	biological process
GO:0052650	NADP-retinol dehydrogenase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0042572	retinol metabolic process	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00830	Retinol metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881