Structural highlights
Disease
MMSA_HUMAN Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency. The disease may be caused by variants affecting the gene represented in this entry.
Function
MMSA_HUMAN Malonate and methylmalonate semialdehyde dehydrogenase involved in the catabolism of valine, thymine, and compounds catabolized by way of beta-alanine, including uracil and cytidine.[1]
References
- ↑ Marcadier JL, Smith AM, Pohl D, Schwartzentruber J, Al-Dirbashi OY, Majewski J, Ferdinandusse S, Wanders RJ, Bulman DE, Boycott KM, Chakraborty P, Geraghty MT. Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria. Orphanet J Rare Dis. 2013 Jul 9;8:98. PMID:23835272 doi:10.1186/1750-1172-8-98
