delta-1-pyrroline-5-carboxylate synthase isoform 1 [Homo sapiens]

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Functional assessment of homozygous ALDH18A1 variants reveals alterations in amino acid and antioxidant metabolism. [Hum Mol Genet. 2023]
Functional assessment of homozygous ALDH18A1 variants reveals alterations in amino acid and antioxidant metabolism.
Colonna MB, Moss T, Mokashi S, Srikanth S, Jones JR, Foley JR, Skinner C, Lichty A, Kocur A, Wood T, et al. Hum Mol Genet. 2023 Feb 19; 32(5):732-744.
SPG9A with the new occurrence of an ALDH18A1 mutation in a CMT1A family with PMP22 duplication: case report. [BMC Neurol. 2021]
SPG9A with the new occurrence of an ALDH18A1 mutation in a CMT1A family with PMP22 duplication: case report.
Koh K, Takaki R, Ishiura H, Tsuji S, Takiyama Y. BMC Neurol. 2021 Feb 11; 21(1):64. Epub 2021 Feb 11.
Δ(1) -Pyrroline-5-carboxylate synthetase deficiency: An emergent multifaceted urea cycle-related disorder. [J Inherit Metab Dis. 2020]
Δ(1) -Pyrroline-5-carboxylate synthetase deficiency: An emergent multifaceted urea cycle-related disorder.
Marco-Marín C, Escamilla-Honrubia JM, Llácer JL, Seri M, Panza E, Rubio V. J Inherit Metab Dis. 2020 Jul; 43(4):657-670. Epub 2020 Feb 9.

RefSeq genomic sequence
See the genomic reference sequence for the ALDH18A1 gene (NG_012258.1).
RefSeq mRNA
See reference mRNA sequence for the ALDH18A1 gene (NM_002860.4).
RefSeq protein isoforms
See 10 reference sequence protein isoforms for the ALDH18A1 gene.

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NP_002851 [Domain Mapping of Disease Mut...]
NP_002851
Domain Mapping of Disease Mutations
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MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF) [MODBASE, Database of Comparat...]
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Evolutionary Trace of Functional Site [Evolutionary Trace of Functio...]
Evolutionary Trace of Functional Site

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