TRAPPC12

Chr 2

trafficking protein particle complex subunit 12

Also known as: CGI-87, PEBAS, TTC-15, TTC15

NCBI Gene: 51112 ENSG00000171853 UniProt: Q8WVT3

The TRAPPC12 protein functions in endoplasmic reticulum to Golgi vesicle-mediated transport as part of the TRAPP complex and regulates kinetochore assembly during cell division. Autosomal recessive mutations cause progressive, early-onset encephalopathy with brain atrophy and spasticity. The pathogenic mechanism likely involves disrupted intracellular trafficking and cell division processes essential for normal brain development and function.

ResearchSummary from RefSeq, OMIM, UniProt

Involved in several processes, including endoplasmic reticulum to Golgi vesicle-mediated transport; positive regulation of protein localization to kinetochore; and regulation of kinetochore assembly. Located in several cellular components, including endoplasmic reticulum-Golgi intermediate compartment; kinetochore; and perinuclear region of cytoplasm. Part of TRAPP complex. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtEncephalopathy, progressive, early-onset, with brain atrophy and spasticity

Clinical highlights

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

1.19

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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