TRAPPC3 Chromosome 1

Trafficking protein particle complex subunit 3

1 variant 1 Health Risk

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What This Gene Does

This gene encodes a component of the trafficking protein particle complex, which tethers transport vesicles to the cis-Golgi membrane. The encoded protein participates in the regulation of transport from the endoplasmic reticulum to the Golgi apparatus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

Gene Info

Gene Group

Trafficking protein particle complex subunits

Locus Type

gene with protein product

Location

1p34.3

Ensembl

ENSG00000054116

Associated Conditions (1)

Bardet-Biedl syndrome

Key Variants

RS751375244

Likely pathogenic

Bardet-Biedl syndrome, Bardet-Biedl syndrome

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS751375244	Health Risk	Likely pathogenic	Bardet-Biedl syndrome, Bardet-Biedl syndrome