• Gene id: 27294

Gene Summary

• Gene Symbol: DHDH   Gene   UCSC   Ensembl
• Aliases: 2DD, HUM2DD
• Gene name: dihydrodiol dehydrogenase
• Alternate names: trans-1,2-dihydrobenzene-1,2-diol dehydrogenase, 3-deoxyglucosone reductase, D-xylose 1-dehydrogenase, D-xylose-NADP dehydrogenase, dihydrodiol dehydrogenase (dimeric),
• Gene location: 19q13.33 (48932789: 48944968)     Exons: 8     NC_000019.10
• Gene summary(Entrez): This gene encodes an enzyme that belongs to the family of dihydrodiol dehydrogenases, which exist in multiple forms in mammalian tissues and are involved in the metabolism of xenobiotics and sugars. These enzymes catalyze the NADP1-linked oxidation of tra
• OMIM: 604109

Protein Summary

• Protein general information: Q9UQ10  
  • Name: Trans 1,2 dihydrobenzene 1,2 diol dehydrogenase (EC 1.3.1.20) (D xylose 1 dehydrogenase) (D xylose NADP dehydrogenase) (EC 1.1.1.179) (Dimeric dihydrodiol dehydrogenase) (Hum2DD)
  • Length: 334  
  • Mass: 36382
  • Tissue specificity: Small intestine. {ECO
• Sequence:

  MALRWGIVSVGLISSDFTAVLQTLPRSEHQVVAVAARDLSRAKEFAQKHDIPKAYGSYEELAKDPSVEVAYIGTQ
  HPQHKAAVMLCLAAGKAVLCEKPTGVNAAEVREMVAEARSRALFLMEAIWTRFFPASEALRSVLAQGTLGDLRVA
  RAEFGKNLIHVPRAVDRAQAGGALLDIGIYCVQFTSMVFGGQKPEKISVVGRRHETGVDDTVTVLLQYPGEVHGS
  FTCSITVQLSNTASVSGTKGMVQLLNPCWCPTELVVKGEHKEFPLPPVPKDCNFDNGAGMSYEAKHVWECLRKGM
  KESPVIPLSESELLADILEEVRKAIGVTFPQDKR

• Structural information:
  • Interpro: IPR036291  IPR000683  
  • STRING: ENSP00000221403
• Other Databases: GeneCards:  DHDH  Malacards:  DHDH

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042843	D-xylose catabolic process	IBA	biological process
GO:0047837	D-xylose 1-dehydrogenase (NADP+) activity	IBA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0008746	NAD(P)+ transhydrogenase activity	TAS	molecular function
GO:0005975	carbohydrate metabolic process	TAS	biological process
GO:0047837	D-xylose 1-dehydrogenase (NADP+) activity	IEA	molecular function
GO:0047115	trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity	IEA	molecular function
GO:0022900	electron transport chain	IEA	biological process
GO:0009055	electron transfer activity	TAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00980	Metabolism of xenobiotics by cytochrome P450
hsa00040	Pentose and glucuronate interconversions

Diseases

Associated diseases	References
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray