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ALDH1L1

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gene2961 wordssynced 2026-04-02

ALDH1L1 — Aldehyde Dehydrogenase 1 Family Member L1

Overview

ALDH1L1 (Aldehyde Dehydrogenase 1 Family Member L1) is a folate-metabolizing enzyme that catalyzes the oxidation of 10-formyltetrahydrofolate to tetrahydrofolate in the mitochondrial folate pathway. Located on chromosome 3q21.3, ALDH1L1 encodes a 902-amino acid protein with multiple functional domains. The enzyme is highly expressed in the liver and brain, particularly in astrocytes where it serves as a specific marker for mature astrocytes. ALDH1L1 plays a critical role in one-carbon metabolism by generating tetrahydrofolate (THF), which is essential for DNA synthesis, methylation reactions, and cellular redox balance.

The ALDH1L1 gene encodes a mitochondrial enzyme that sits at a crucial intersection of folate metabolism and cellular homeostasis. The enzyme converts 10-formyltetrahydrofolate (10-formyl-THF) to tetrahydrofolate (THF), simultaneously producing NADPH through its aldehyde dehydrogenase activity. This dual function positions ALDH1L1 as a key regulator of one-carbon metabolism that impacts DNA synthesis, methylation capacity, and cellular redox state—all processes critical to neuronal health and implicated in neurodegenerative diseases.

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