rs145323335

This variant is located in the DECR1 gene.

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ClinVar annotation

Likely Benign★★★☆

3 submitters2 publications

Progressive encephalopathy with leukodystrophy due to DECR deficiency; DECR1-related disorder; not provided

About DECR1

Enables 2,4-dienoyl-CoA reductase (NADPH) activity; NADPH binding activity; and identical protein binding activity. Involved in fatty acid beta-oxidation. Located in cytosol; mitochondrion; and nucleoplasm. Part of catalytic complex. [provided by Alliance of Genome Resources, Jul 2025]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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