Species: Hu, Mu, Rt, Bv, Ca, Ch, ChHa
Applications: WB, ICC/IF, IHC
Host: Mouse Monoclonal
Species: Hu
Applications: WB, ICC/IF, IHC
Host: Rabbit Polyclonal
Species: Hu
Applications: WB, ICC/IF, IHC
Host: Rabbit Polyclonal
Species: Hu
Applications: WB
Species: Hu
Applications: WB
Species: Hu
Applications: AC
Species: Hu
Applications: AC
Species: Hu
Applications: AC
Description
58K protein antibodies are excellent for use as markers for the Golgi complex. The 58K protein has been identified as being FTCD, a bifunctional enzyme that channels 1-carbon units from formiminoglutamate, a metabolite of the histidine degradation pathway, to the folate pool. Defects in FTCD are the cause of glutamate formiminotransferase deficiency; also known as formiminoglutamicaciduria (FIGLU-uria). It is an autosomal recessive disorder. Features of a severe phenotype, include elevated levels of formiminoglutamate (FIGLU) in the urine in response to histidine administration, megaloblastic anemia, and mental retardation. Features of a mild phenotype include high urinary excretion of FIGLU in the absence of histidine administration, mild developmental delay, and no hematological abnormalities.
Bioinformatics
Entrez |
Human Mouse Rat |
Uniprot |
Human Human Human Human Human Human Human Rat Human Mouse |
Product By Gene ID |
10841 |
Alternate Names |
- formimidoyltransferase cyclodeaminase
- formimidoyltransferase-cyclodeaminase
- formiminotransferase cyclodeaminase
- Formiminotransferase-cyclodeaminase
- human formiminotransferase cyclodeaminase, EC 4.3.1.410formiminotransferase-cyclodeaminase
- LCHC1
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