Trafficking protein particle complex subunit 11 (TRAPPC11)

Trafficking protein particle complex subunit 11 (TRAPPC11) is a protein encoded by the TRAPPC11 gene in humans. It is a subunit of the TRAPP (transport protein particle) multisubunit tethering complex, which facilitates intracellular vesicle trafficking, specifically at early stages of endoplasmic reticulum (ER) to Golgi transport. TRAPPC11 plays a critical role in maintaining Golgi apparatus structure, protein glycosylation, and autophagy. Pathogenic variants in TRAPPC11 result in a spectrum of recessive diseases, most notably limb-girdle muscular dystrophy type 2S (LGMDR18/2S), as well as syndromic phenotypes featuring myopathy, intellectual disability, and liver/ocular involvement. TRAPPC11 does not constitute a direct therapeutic drug target, but its genetic and cellular functions are clinically significant in understanding syndromic muscular dystrophies and related disorders[1][2][3][4].

Other names

C4orf41FLJ12716gryfoigrgryzun homolog (Drosophila)foie gras homolog (zebrafish)FOIGRGRYLGMD2SLGMDR18trafficking protein particle complex 11foie gras homologgryzun homolog