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The protein encoded by TRAPPC11 is a subunit of the TRAPP (transport protein particle) tethering complex, which functions in intracellular vesicle trafficking. De plus, nous expédions TRAPPC11 Anticorps (5) et beaucoup plus de produits pour cette protéine.
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Recessive mutations in TRAPPC11 and GOSR2 are associated with congenital muscular dystrophy and hypoglycosylation of alpha-dystroglycan.
The identified novel TRAPPC11 mutation represents an expansion of the myopathy phenotype described before and is characterised particularly by achalasia, alacrima, neurological and muscular phenotypes.
TRAPPC11 role in protein glycosylation and lipid-linked oligosaccharides biosynthesis
Homozygous mutations in the membrane trafficking component TRAPPC11 causes a form of autosomal-recessive, slowly progressive limb girdle muscular dystrophy with childhood onset and high serum creatine kinase.
fois gras mutation develops large, lipid-filled hepatocytes, resembling those in individuals with fatty liver disease
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.
UPF0636 protein C4orf41
, trafficking protein particle complex 11
, trafficking protein particle complex subunit 11
, foie gras homolog
, gryzun homolog
, UPF0636 protein C4orf41 homolog
, FLJ12716-like protein
, foie gras
, protein foie gras