Please wait while page loads....
Details of GFPT1 gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| GFPT1 | GFAT,GFPT | Q06210 | GFPT1_HUMAN | 2673
| ENSG00000198380
| Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1 | SPROT |
Disease |
|---|
| Disease |
OMIM id |
| Myasthenic syndrome, congenital, with tubular aggregates, 1 (CMSTA1) [MIM:610542]: A congenital myasthenic syndrome 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. Note=The disease is caused by mutations affecting the gene represented in this entry. |
610542 |
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
|
