GFPT1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human GFPT1 wild-type allele is located in the vicinity of 2p13.3 and is approximately 67 kb in length. This allele, which encodes glutamine-fructose-6-phosphate aminotransferase [isomerizing] 1 protein, plays a role in regulation of both glucose metabolism and the availability of hexosamine precursors for protein glycosylation. Mutation of the gene is associated with congenital myasthenic syndrome 12.

**Synonyms:** - CMS12 - CMSTA1 - GFA - GFAT - GFAT 1 - GFAT1 - GFAT1m - GFPT - GFPT1L - Glutamine--Fructose-6-Phosphate Transaminase 1 Gene - Glutamine-Fructose-6-Phosphate Transaminase 1 wt Allele - MSLG