NP_006648.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
16,503 Da
NCBI Official Full Name
formimidoyltransferase-cyclodeaminase
NCBI Official Synonym Full Names
formimidoyltransferase cyclodeaminase
NCBI Official Synonym Symbols
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
UniProt Synonym Gene Names
UniProt Entry Name
FTCD_HUMAN
NCBI Summary for FTCD
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 Comments for FTCD
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.
Protein type: Methyltransferase; EC 2.1.2.5; Lyase; Amino Acid Metabolism - histidine; Cofactor and Vitamin Metabolism - one carbon pool by folate; EC 4.3.1.4
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; histidine catabolic process to glutamate and formamide; cytoskeleton organization and biogenesis; histidine catabolic process; histidine catabolic process to glutamate and formate
Disease: Formiminotransferase Deficiency
Research Articles on FTCD
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Products associated with anti-FTCD antibody
Pathways associated with anti-FTCD antibody
Diseases associated with anti-FTCD antibody
Organs/Tissues associated with anti-FTCD antibody
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