TEDC1

Tubulin epsilon and delta complex 1

Tier: Cilia-Associated Genes

Ensembl:: ENSG00000185347
Synonyms:: C14ORF80

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

References: PMID:39979680

Subcellular localization

Nucleoplasm, Golgi apparatus, Cytosol

References: PMID:40067174

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).

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