Features include: Low-molecular-weight proteinuria, Aminoaciduria, Short stature, and Reduced kidney function (renal insufficiency) and 7 more.

EHHADH encodes enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase (723 aa). Peroxisomal trifunctional enzyme possessing 2-enoyl-CoA hydratase, 3-hydroxyacyl-CoA dehydrogenase, and delta 3, delta 2-enoyl-CoA isomerase activities. Highest expression in Liver (91.6 TPM) and Kidney Cortex (18.2 TPM).

Fanconi renotubular syndrome 3 has limited evidence linking it to mutations in the EHHADH gene on chromosome 3.

The EHHADH protein participates in EHHADH dehydrogenates 3-hydroxyhexacosanoyl-CoA and EHHADH hydrates trans-2,3-dehydrohexacosanoyl-CoA pathways.

EHHADH is classified as a druggable target (Enzyme category) with score 0.0.

Genetic testing for EHHADH is available. Testing is considered research-grade for diagnosis.

Biomarker and diagnostic research for Fanconi renotubular syndrome 3 has been reported in the published literature.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

84 publications have been identified in PubMed for Fanconi renotubular syndrome 3. Research spans Case Report / Case Series (42%), Epidemiology / Natural History (17%), and Basic Science / Preclinical (15%).