Gene: TRAPPC11

Alternate names for this Gene: C4orf41|FOIGR|GRY|LGMD2S|LGMDR18

Gene Summary: The protein encoded by this gene is a subunit of the TRAPP (transport protein particle) tethering complex, which functions in intracellular vesicle trafficking. This subunit is involved in early stage endoplasmic reticulum-to-Golgi vesicle transport. Alternative splicing of this gene results in multiple transcript variants.

Gene is located in Chromosome: 4

Location in Chromosome : 4q35.1

Description of this Gene: trafficking protein particle complex 11

Type of Gene: protein-coding

rs397509417 in TRAPPC11 gene and Autosomal recessive limb girdle muscular dystrophy type 2S PMID 23830518 2013 Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability.

rs10018951 in TRAPPC11 gene and Lupus Erythematosus, Systemic PMID 29494758 2018 Genome-wide association study identifies three novel susceptibility loci for systemic lupus erythematosus in Han Chinese.

rs140403642 in TRAPPC11 gene and Muscular Dystrophies, Limb-Girdle PMID 27707803 2017 A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima.

PMID 26322222 2015 Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype.