Metabolism Antibodies 3
Anti-FTCD Antibody (CAB9484)
- SKU:
- CAB9484
- Product Type:
- Antibody
- Applications:
- WB
- Reactivity:
- Human
- Reactivity:
- Mouse
- Reactivity:
- Rat
- Host Species:
- Rabbit
- Isotype:
- IgG
- Research Area:
- Metabolism
Description
Antibody Name: | Anti-FTCD Antibody |
Antibody SKU: | CAB9484 |
Antibody Size: | 20uL, 50uL, 100uL |
Application: | WB |
Reactivity: | Human, Mouse, Rat |
Host Species: | Rabbit |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 412-541 of human FTCD (NP_006648.1). |
Application: | WB |
Recommended Dilution: | WB 1:1000 - 1:2000 |
Reactivity: | Human, Mouse, Rat |
Positive Samples: | LO2, Mouse liver, Mouse kidney, Rat liver, Rat kidney |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 412-541 of human FTCD (NP_006648.1). |
Purification Method: | Affinity purification |
Storage Buffer: | Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
Isotype: | IgG |
Sequence: | DAEA FTAY LEAM RLPK NTPE EKDR RTAA LQEG LRRA VSVP LTLA ETVA SLWP ALQE LARC GNLA CRSD LQVA AKAL EMGV FGAY FNVL INLR DITD EAFK DQIH HRVS SLLQ EAKT QAAL VLDC LETR QE |
Gene ID: | 10841 |
Uniprot: | O95954 |
Cellular Location: | Cytoplasm, Golgi apparatus, centriole, centrosome, cytoskeleton, microtubule organizing center |
Calculated MW: | 16kDa/52kDa/58kDa/61kDa |
Observed MW: | 59kDa |
Synonyms: | FTCD, LCHC1 |
Background: | 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. |
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 |
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