TBCE

Chr 1AR

tubulin folding cofactor E

ENSG00000284770 UniProt: Q15813 OMIM: 604934

Cofactor E binds to the cofactor D/beta-tubulin complex and facilitates the release of correctly folded beta-tubulin committed to the native state, functioning as part of the tubulin folding pathway. Biallelic mutations cause autosomal recessive conditions including progressive encephalopathy with amyotrophy and optic atrophy, hypoparathyroidism-retardation-dysmorphism syndrome, and Kenny-Caffey syndrome type 1. The pathogenic mechanism appears to be dominant negative, disrupting proper microtubule formation essential for cellular structure and function.

OMIM ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

Tubulin-folding protein; involved in the second step of the tubulin folding pathway and in the regulation of tubulin heterodimer dissociation. Required for correct organization of microtubule cytoskeleton and mitotic splindle, and maintenance of the neuronal microtubule network

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Encephalopathy, progressive, with amyotrophy and optic atrophyMIM #617207

Hypoparathyroidism-retardation-dysmorphism syndromeMIM #241410

Kenny-Caffey syndrome, type 1MIM #244460

Clinical highlights

Gene-disease validity (ClinGen)

encephalopathy, progressive, with amyotrophy and optic atrophy · ARModerateconsider for supplementary testing

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.81

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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