TRAPPC6B

Chr 14AR

trafficking protein particle complex subunit 6B

Also known as: NEDMEBA, TPC6

NCBI Gene: 122553 ENSG00000182400 UniProt: Q86SZ2 OMIM: 610397

TRAPPC6B encodes a component of transport protein particle (TRAPP) complexes that function in vesicle transport between cellular organelles and regulate intracellular calcium transients critical for neuron differentiation and survival. Biallelic mutations cause autosomal recessive neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy. The gene is not highly constrained against loss-of-function variants, consistent with its recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

TRAPPC6B is a component of TRAPP complexes, which are tethering complexes involved in vesicle transport (Kummel et al., 2005 [PubMed 16025134]).[supplied by OMIM, Mar 2008]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophyMIM #617862

Clinical highlights

Gene-disease validity (ClinGen)

neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy · ARDefinitivesufficient evidence for diagnostic panels

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)

—

P/LP submissions

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P/LP missense

1.32

LOEUF

LOF

Mechanism· G2P