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ALDH18A1, or Delta-1-pyrroline-5-carboxylate synthase, contains a long 88 kDa and a short 87 kDa isoform, and is involved in the catalytic conversion of glutamate to glutamate 5-semialdehyde. Current research on ALDH18A1 is being conducted to determine the relation between the protein and a variety of diseases and disorders, including neurodegeneration, pneumonia, connective tissue disease, mental retardation, hypoornithinemia, tuberculosis, microcephaly, Alzheimer's disease, gastroesophageal reflux disease, and dementia. The protein has been linked to biosynthesis and metabolic pathways where it interacts with PUS1, UQCRFS1, ICT1, OAT, and MYC.
