KEGG   VARIANT: 4329v1
Entry
4329v1                      Variant                                
Name
ALDH6A1 deficiency
Type
Loss of function
Gene
ALDH6A1  aldehyde dehydrogenase 6 family member A1 [KO:K00140]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 603178
Network
nt06024  Valine, leucine and isoleucine degradation
Disease
H02285  Methylmalonate semialdehyde dehydrogenase deficiency
Reference
PMID:10947204
  Authors
Chambliss KL, Gray RG, Rylance G, Pollitt RJ, Gibson KM
  Title
Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency.
  Journal
J Inherit Metab Dis 23:497-504 (2000)
DOI:10.1023/A:1005616315087
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