Target

Gene symbol :  
Gfpt1
NCBI gene ID :  
14583
Gene full name :  
Glutamine-fructose-6-phosphate transaminase 1
Synonym :  
GFA, GFAT1, Gfat

Protein function

Protein name :  
GFPT1
Catalyzes rate-limiting step in hexosamine biosynthetic pathway; key for glycosylation.

Expected phenotype

Neuromuscular transmission defects

Human disease relevance

Mutations cause congenital myasthenic syndromes

Model applications

Muscle glycosylation, metabolism

Keywords:

GlcNAc, Myasthenia, Glycosylation

Availability & Delivery:

  • Cryo-recovery using in-house SOPF facilities
  • Worldwide delivery by professional breeders

Gfpt1

conditional Knockout mouse

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