Human FTCD Recombinant Protein (RPPB1649)
- SKU:
- RPPB1649
- Product Type:
- Recombinant Protein
- Species:
- Human
- Uniprot:
- O95954
- Research Area:
- Enzymes
Description
| Product Name: | Human FTCD Recombinant Protein |
| Product Code: | RPPB1649 |
| Size: | 10µg |
| Species: | Human |
| Target: | FTCD |
| Synonyms: | Formiminotransferase-cyclodeaminase, FTCD, LCHC1, LC-1. |
| Source: | Sf9 Insect cells |
| Formulation: | FTCD is supplied in 16mM HEPES buffer pH-7.6, 240mM sodium chloride, and 20% glycerol. |
| Stability: | Store at 4°C if entire vial will be used within 2-4 weeks.�Store, frozen at -20°Cfor longer periods of time.�Avoid multiple freeze-thaw cycles. |
| Purity: | Greater than 95% as determined by SDS-PAGE. |
Formiminotransferase cyclodeaminase is an enzyme which catalyzes the conversion of formiminoglutamateand tetrahydrofolateinto formiminotetrahydrofolateand glutamate.Formiminotransferase cyclodeaminase, a bifunctional enzyme of tetrahydrofolate synthesis, is the target antigen of anti-LC1 (liver cytosol antigen type 1) autoantibodies. Presence of LC1 autoantibodies is a marker for type 2 autoimmune hepatitis (for which anti-LKM 1/cytochrome P450 2D6 autoantibodies are a further marker).Serum LC1 autoantibody concentrations appear to fluctuate in parallel with aminotransferase levels, a particularly intriguing observation that suggests a possible role of LC1 autoreactivity in the pathogenic mechanism leading to hepatocyte injury.
Formiminotransferase Cyclodeaminase Human Recombinant (also called liver cytosol type 1) produced in SF9, is a glycosylated, polypeptide chain having a molecular mass of 59,749 Dalton.The FTCD is expressed with a -6xHis tag and purified by proprietary chromatographic techniques.
| UniProt Protein Function: | FTCD: Folate-dependent enzyme, that displays both transferase and deaminase activity. Serves to channel one-carbon units from formiminoglutamate to the folate pool. Defects in FTCD are the cause of glutamate formiminotransferase deficiency (FIGLU-URIA); 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. 4 isoforms of the human protein are produced by alternative splicing. |
| UniProt Protein Details: | Protein type:Amino Acid Metabolism - histidine; Lyase; Methyltransferase; EC 4.3.1.4; Cofactor and Vitamin Metabolism - one carbon pool by folate; EC 2.1.2.5 Chromosomal Location of Human Ortholog: 21q22.3 Cellular Component: centriole; Golgi apparatus; cytoplasm; cytosol Molecular Function:formimidoyltetrahydrofolate cyclodeaminase activity; glutamate formimidoyltransferase activity; folic acid binding Biological Process: folic acid and derivative metabolic process; cytoskeleton organization and biogenesis; histidine catabolic process to glutamate and formamide; histidine catabolic process; histidine catabolic process to glutamate and formate Disease: Formiminotransferase Deficiency |
| NCBI Summary: | The protein encoded by this gene is a bifunctional enzyme that channels 1-carbon units from formiminoglutamate, a metabolite of the histidine degradation pathway, to the folate pool. Mutations in this gene are associated with glutamate formiminotransferase deficiency. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Dec 2009] |
| UniProt Code: | O95954 |
| NCBI GenInfo Identifier: | 8134464 |
| NCBI Gene ID: | 10841 |
| NCBI Accession: | O95954.2 |
| UniProt Secondary Accession: | O95954,Q86V03, Q9HCT4, Q9HCT5, Q9HCT6, Q9UHJ2, B9EGD0 |
| UniProt Related Accession: | O95954 |
| Molecular Weight: | 16,503 Da |
| NCBI Full Name: | Formimidoyltransferase-cyclodeaminase |
| NCBI Synonym Full Names: | formimidoyltransferase cyclodeaminase |
| NCBI Official Symbol: | FTCD�� |
| NCBI Official Synonym Symbols: | LCHC1�� |
| NCBI Protein Information: | formimidoyltransferase-cyclodeaminase; formiminotransferase cyclodeaminase; formiminotransferase-cyclodeaminase |
| UniProt Protein Name: | Formimidoyltransferase-cyclodeaminase |
| UniProt Synonym Protein Names: | Formiminotransferase-cyclodeaminase; FTCD; LCHC1Including the following 2 domains:Glutamate formimidoyltransferase (EC:2.1.2.5)Alternative name(s):Glutamate formiminotransferase; Glutamate formyltransferase |
| Protein Family: | Formimidoyltransferase-cyclodeaminase |
| UniProt Gene Name: | FTCD�� |
| UniProt Entry Name: | FTCD_HUMAN |
