MDH1

malate dehydrogenase 1

Tier: Gold Standard Ciliary Genes

Ensembl:: ENSG00000014641
OMIM:: 154200

Phenotypes

Mouse phenotype:: thick ventricular wall

Subcellular localization

motile cilia, Centrosome, Cytosol

References: PMID:39743588

Functional category

Non-motile cilium / primary cilium

Function

MDH1A/B — A metabolic enzyme detected in motile cilia, associated with the RS3 region, but not a canonical structural axoneme protein(39743588). Identified by cryo-EM as a component of radial spoke 3 in sperm flagella and other motile cilia (Leung et al., 2025, Nature, PMID 39743588).

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