Gene: GFPT1

Alternate names for this Gene: CMS12|CMSTA1|GFA|GFAT|GFAT 1|GFAT1|GFAT1m|GFPT|GFPT1L|MSLG

Gene Summary: This gene encodes the first and rate-limiting enzyme of the hexosamine pathway and controls the flux of glucose into the hexosamine pathway. The product of this gene catalyzes the formation of glucosamine 6-phosphate.

Gene is located in Chromosome: 2

Location in Chromosome : 2p13.3

Description of this Gene: glutamine--fructose-6-phosphate transaminase 1

Type of Gene: protein-coding

rs4410328 in GFPT1 gene and Body mass index PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

rs1011196447 in GFPT1 gene and MYASTHENIC SYNDROME, CONGENITAL, 12 PMID 28464723 2017 Genetic Landscape of Congenital Myasthenic Syndromes From Turkey: Novel Mutations and Clinical Insights.

PMID 23794683 2013 GFPT1-myasthenia: clinical, structural, and electrophysiologic heterogeneity.

PMID 21310273 2011 Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.

PMID 25765662 2015 A 3'-UTR mutation creates a microRNA target site in the GFPT1 gene of patients with congenital myasthenic syndrome.

PMID 23488891 2014 Exome sequencing detection of two untranslated GFPT1 mutations in a family with limb-girdle myasthenia.

PMID 28712002 2017 Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy.

rs4410328 in GFPT1 gene and body fat percentage (physical finding) PMID 30593698 2019 Genomics of body fat percentage may contribute to sex bias in anorexia nervosa.