AutismKB 2.0

Annotation Details for ALDH4A1


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Basic Information Top
Gene Symbol:ALDH4A1 ( ALDH4,DKFZp779M035,P5CD,P5CDh )
Gene Full Name: aldehyde dehydrogenase 4 family, member A1
Band: 1p36.13
Quick LinksEntrez ID:8659; OMIM: 606811; Uniprot ID:AL4A1_HUMAN; ENSEMBL ID: ENSG00000159423; HGNC ID: 406
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005759TAS-mitochondrial matrix-
GO ID Evidence Qualifier GO_term References
GO:0003842EXP-1-pyrroline-5-carboxylate dehydrogenase activity8621661
GO:0004029IDA-aldehyde dehydrogenase (NAD) activity4015840
GO:0009055TAS-electron carrier activity8621661
GO:0042802IPI-identical protein binding22516612
GO ID Evidence Qualifier GO_term References
GO:0006537IEA-glutamate biosynthetic process-
GO:0006560TAS-proline metabolic process8621661
GO:0006561IEA-proline biosynthetic process-
GO:0006562TAS-proline catabolic process-
GO:0010133IEA-proline catabolic process to glutamate-
GO:0019470TAS-4-hydroxyproline catabolic process21998747
GO:0046487TAS-glyoxylate metabolic process-
GO:0055114IEA-oxidation-reduction process-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2443883
  • Data Attributes: MGI curated and HomoloGene calculated
No data
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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018