TEDC1

Phenotypes

Mouse phenotype:

abnormal uterus morphology, abnormal heart morphology

Human ciliopathy phenotype:

Bi-allelic loss-of-function variants cause prenatal-onset severe growth impairment, primary microcephaly, developmental delay, adrenal insufficiency, congenital glaucoma, delayed bone aging, craniosynostosis, congenital tracheal stenosis, primary hypogonadism.

Ciliopathy associations

• Microcephalic Growth Impairment Syndrome

Subcellular localization

Ciliary associated gene, Nucleoplasm, Golgi apparatus, Cytosol

Functional category

• Metabolism
• Ciliary assembly/disassembly
• Cilia–cytoskeleton/adhesion links

Function

TEDC1 partners with TEDC2 for centriole stability and cell proliferation. Bi-allelic TEDC1 deletion causes cilia abnormalities through defective acetylated tubulins. tedc1-/- zebrafish recapitulates growth impairment and cranial bone dysplasia (Miyake et al. 2025, PMID 39979680).