GFPT1 gene

glutamine--fructose-6-phosphate transaminase 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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. [provided by RefSeq, Sep 2008]

From UniProt:

Controls the flux of glucose into the hexosamine pathway. Most likely involved in regulating the availability of precursors for N- and O-linked glycosylation of proteins. Regulates the circadian expression of clock genes ARNTL/BMAL1 and CRY1.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
  • Congenital myasthenic syndrome with tubular aggregates 1

From UniProt:

Myasthenic syndrome, congenital, 12 (CMS12): A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness. CMS12 is characterized by onset of proximal muscle weakness in the first decade. Individuals with this condition have a recognizable pattern of weakness of shoulder and pelvic girdle muscles, and sparing of ocular or facial muscles. EMG classically shows a decremental response to repeated nerve stimulation, a sign of neuromuscular junction dysfunction. Affected individuals show a favorable response to acetylcholinesterase (AChE) inhibitors. [MIM:610542]

Cytogenetic Location: 2p13, which is the short (p) arm of chromosome 2 at position 13

Molecular Location: base pairs 69,319,769 to 69,387,254 on chromosome 2 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 2p13, which is the short (p) arm of chromosome 2 at position 13
  • CMS12
  • CMSTA1
  • GFA
  • GFAT
  • GFAT 1
  • GFAT1
  • GFAT1m
  • GFPT
  • GFPT1L
  • MSLG