aldehyde dehydrogenase 18 family member A1

Summary
Gene Symbol
  • ALDH18A1
Organism
Homo sapiens (human)
NCBI Gene
5832
PubChem
5832
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • ATP-binding
  • Alternative splicing
  • Disease variant
  • Hereditary spastic paraplegia
  • Intellectual disability
  • Kinase
  • Mitochondrion inner membrane
  • Multifunctional enzyme
  • NADP
  • Oxidoreductase
  • Proline biosynthesis
  • Reference proteome
Proteins
Displaying 1 entry
UniProt Protein Name
P54886
  • Aldehyde dehydrogenase family 18 member A1
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
Disease
Disease Ontology
Displaying all 9 entries
DO ID Disease Name Source
DOID:0070131 autosomal dominant cutis laxa 3
DOID:0070132 autosomal recessive cutis laxa type IIIA
DOID:0070143 autosomal recessive cutis laxa type III
DOID:0110824 hereditary spastic paraplegia 9A
DOID:0110825 hereditary spastic paraplegia 9B
DOID:1283 enterocele
DOID:2476 hereditary spastic paraplegia
DOID:83 cataract
DOID:9252 amino acid metabolic disorder

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024