58K Golgi protein Recombinant Rabbit Monoclonal Antibody [JF099-5]

Function

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)], 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.

Background References

1. Koumangoye R & Delpire E The Ste20 kinases SPAK and OSR1 travel between cells through exosomes. Am J Physiol Cell Physiol 311:C43-53 (2016).

2. Schrage YM et al. Aberrant heparan sulfate proteoglycan localization, despite normal exostosin, in central chondrosarcoma. Am J Pathol 174:979-88 (2009).

Sequence Similarity

In the C-terminal section; belongs to the cyclodeaminase/cyclohydrolase family.; In the N-terminal section; belongs to the formiminotransferase family.

Subcellular Location

Cytoplasm, Golgi apparatus.

UNIPROT

SwissProt: O95954 Human

Synonyms