TBC1D14

Chr 4

TBC1 domain family member 14

NCBI Gene: 57533 ENSG00000132405 UniProt: Q9P2M4 OMIM: 614855

The TBC1D14 protein regulates autophagosome formation during cellular starvation and controls trafficking of ATG9 from recycling endosomes to the Golgi apparatus to maintain the autophagy initiation machinery. Mutations cause autosomal recessive developmental and epileptic encephalopathy with movement abnormalities, typically presenting in infancy. The gene is highly constrained against loss-of-function variants (LOEUF 0.457), indicating intolerance to protein-disrupting mutations.

OMIM ResearchSummary from RefSeq, UniProt

Enables protein kinase binding activity. Involved in negative regulation of autophagy; recycling endosome to Golgi transport; and regulation of autophagosome assembly. Located in Golgi apparatus; autophagosome; and recycling endosome. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.46

LOEUF

Multiple*

Mechanism· predicted