Gene Symbol | GFPT1 |
Entrez Gene ID | 2673 |
Full Name | glutamine--fructose-6-phosphate transaminase 1 |
Synonyms | CMS12,CMSTA1,GFA,GFAT,GFAT 1,GFAT1,GFAT1m,GFPT,GFPT1L,MSLG |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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. [provided by RefSeq, Sep 2008]. |
Disorder MIM: | |
Disorder Html: | Myasthenia, congenital, 12, with tubular aggregates, 610542 (3) |