TRAPPC14

Chr 7AR

trafficking protein particle complex subunit 14

Also known as: C7orf43, MAP11, MCPH25

NCBI Gene: 55262 ENSG00000146826 UniProt: Q8WVR3 OMIM: 618350

The protein is a specific subunit of the TRAPP II complex that functions in Golgi trafficking and mediates vesicle transport to the mother centriole during ciliogenesis. Mutations cause primary autosomal recessive microcephaly 25, with autosomal recessive inheritance. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.494), and the condition affects brain development with primary microcephaly present at birth.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

Enables alpha-tubulin binding activity. Involved in cilium assembly and regulation of cell population proliferation. Located in several cellular components, including microtubule cytoskeleton; midbody; and plasma membrane. Part of TRAPPII protein complex. Implicated in primary autosomal recessive microcephaly 25. [provided by Alliance of Genome Resources, Apr 2025]

OMIM ResearchGenerating clinical summary…

ARLOEUF 0.491 OMIM phenotype

Clinical Summary— TRAPPC14

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Population Constraint (gnomAD)

Constrained for loss-of-function variants (OE-LoF 0.25) despite low pLI — interpret in context.

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