• Gene id: 64577

Gene Summary

• Gene Symbol: ALDH8A1   Gene   UCSC   Ensembl
• Aliases: ALDH12, DJ352A20.2
• Gene name: aldehyde dehydrogenase 8 family member A1
• Alternate names: 2-aminomuconic semialdehyde dehydrogenase, aldehyde dehydrogenase 12, aldehyde dehydrogenase family protein,
• Gene location: 6q23.3 (134950100: 134917392)     Exons: 7     NC_000006.12
• Gene summary(Entrez): This gene encodes a member of the aldehyde dehydrogenase family of proteins. The encoded protein has been implicated in the synthesis of 9-cis-retinoic acid and in the breakdown of the amino acid tryptophan. This enzyme converts 9-cis-retinal into the ret
• OMIM: 605574

Protein Summary

• Protein general information: Q9H2A2  
  • Name: 2 aminomuconic semialdehyde dehydrogenase (EC 1.2.1.32) (Aldehyde dehydrogenase 12) (Aldehyde dehydrogenase family 8 member A1)
  • Length: 487  
  • Mass: 53401
  • Tissue specificity: Highly expressed in adult kidney and liver. Detected at lower levels in fetal liver and kidney. {ECO
• Sequence:

  MAGTNALLMLENFIDGKFLPCSSYIDSYDPSTGEVYCRVPNSGKDEIEAAVKAAREAFPSWSSRSPQERSRVLNQ
  VADLLEQSLEEFAQAESKDQGKTLALARTMDIPRSVQNFRFFASSSLHHTSECTQMDHLGCMHYTVRAPVGVAGL
  ISPWNLPLYLLTWKIAPAMAAGNTVIAKPSELTSVTAWMLCKLLDKAGVPPGVVNIVFGTGPRVGEALVSHPEVP
  LISFTGSQPTAERITQLSAPHCKKLSLELGGKNPAIIFEDANLDECIPATVRSSFANQGEICLCTSRIFVQKSIY
  SEFLKRFVEATRKWKVGIPSDPLVSIGALISKAHLEKVRSYVKRALAEGAQIWCGEGVDKLSLPARNQAGYFMLP
  TVITDIKDESCCMTEEIFGPVTCVVPFDSEEEVIERANNVKYGLAATVWSSNVGRVHRVAKKLQSGLVWTNCWLI
  RELNLPFGGMKSSGIGREGAKDSYDFFTEIKTITVKH

• Structural information:
  • Interpro: IPR016161  IPR016163  IPR016160  IPR029510  IPR016162   IPR015590  
  • Prosite: PS00070 PS00687
  • STRING: ENSP00000265605
• Other Databases: GeneCards:  ALDH8A1  Malacards:  ALDH8A1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001758	retinal dehydrogenase activity	IBA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016620	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0047102	aminomuconate-semialdehyde dehydrogenase activity	IEA	molecular function
GO:0001758	retinal dehydrogenase activity	TAS	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0001758	retinal dehydrogenase activity	IEA	molecular function
GO:0042904	9-cis-retinoic acid biosynthetic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0097053	L-kynurenine catabolic process	IEA	biological process
GO:0042573	retinoic acid metabolic process	IDA	biological process
GO:0042574	retinal metabolic process	IDA	biological process
GO:0001758	retinal dehydrogenase activity	IDA	molecular function
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00380	Tryptophan 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