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Aliases for FTCD Gene

Aliases for FTCD Gene

  • Formimidoyltransferase Cyclodeaminase 2 3 5
  • Formimidoyltransferase-Cyclodeaminase 3 4
  • Formiminotransferase-Cyclodeaminase 3 4
  • LCHC1 3 4
  • Formiminotransferase Cyclodeaminase 2

External Ids for FTCD Gene

Previous GeneCards Identifiers for FTCD Gene

  • GC21M044062
  • GC21M046412
  • GC21M046380
  • GC21M047556
  • GC21M032937
  • GC21M046162
  • GC21M046169
  • GC21M046637
  • GC21M046174
  • GC21M046187

Summaries for FTCD Gene

Entrez Gene Summary for FTCD Gene

  • 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]

GeneCards Summary for FTCD Gene

FTCD (Formimidoyltransferase Cyclodeaminase) is a Protein Coding gene. Diseases associated with FTCD include Glutamate Formiminotransferase Deficiency and Autoimmune Hepatitis. Among its related pathways are Histidine metabolism and Amino Acid metabolism. Gene Ontology (GO) annotations related to this gene include transferase activity and glutamate formimidoyltransferase activity. An important paralog of this gene is FTCDNL1.

UniProtKB/Swiss-Prot for FTCD Gene

  • Folate-dependent enzyme, that displays both transferase and deaminase activity. Serves to channel one-carbon units from formiminoglutamate to the folate pool.
  • Binds and promotes bundling of vimentin filaments originating from the Golgi.

Additional gene information for FTCD Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FTCD Gene

Genomics for FTCD Gene

GeneHancer (GH) Regulatory Elements for FTCD Gene

Promoters and enhancers for FTCD Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH21J046154 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 600.7 +0.2 177 1.5 ELF3 MNT POLR2A TFE3 SP1 HNF1A PPARG SP5 KAT8 GLIS2 FTCD SPATC1L MCM3AP FTCD-AS1
GH21J046142 Promoter 1.4 EPDnew Ensembl 610.6 +13.3 13256 0.4 MAFK ZBTB33 ZNF316 SP2 SCRT2 EZH2 MAFG NFYC EMSY FTCD GC21M046946 DIP2A MCM3AP FTCD-AS1
GH21J046133 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 19.9 +21.9 21878 2.5 ZSCAN21 ZNF24 ZBTB7A SP7 KLF14 RXRA PRDM10 ZEB2 ZNF639 ATF7 MCM3AP-AS1 ENSG00000228137 FTCD MCM3AP DIP2A POFUT2 GC21P046125 GC21M046946 COL6A2
GH21J046108 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE dbSUPER 12.2 +45.5 45531 2.8 ZNF680 ZBTB33 ZNF223 ZNF143 GLIS1 COL6A2 FTCD-AS1 FTCD ENSG00000223901 MCM3AP-AS1 LSS YBEY DIP2A GC21P046125
GH21J046182 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 7.5 -28.2 -28226 4.1 ZFX SP1 CBFA2T2 ZNF148 NKRF MLLT1 FOS CDC5L EGR1 HDGF SPATC1L ENSG00000228404 MCM3AP YBEY MCM3AP-AS1 COL6A2 ENSG00000224413 ENSG00000228137 FTCD LSS
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FTCD on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FTCD gene promoter:
  • COUP
  • COUP-TF1
  • CREB
  • deltaCREB
  • E47
  • HEN1
  • Olf-1
  • Pax-4a
  • Tal-1beta

Genomic Locations for FTCD Gene

Genomic Locations for FTCD Gene
19,706 bases
Minus strand
19,306 bases
Minus strand

Genomic View for FTCD Gene

Genes around FTCD on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FTCD Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FTCD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FTCD Gene

Proteins for FTCD Gene

  • Protein details for FTCD Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • B9EGD0
    • Q86V03
    • Q9HCT4
    • Q9HCT5
    • Q9HCT6
    • Q9UHJ2

    Protein attributes for FTCD Gene

    541 amino acids
    Molecular mass:
    58927 Da
    Name=pyridoxal 5'-phosphate; Xref=ChEBI:CHEBI:597326;
    Quaternary structure:
    • Homooctamer, including four polyglutamate binding sites. The subunits are arranged as a tetramer of dimers, and form a planar ring-shaped structure (By similarity).

    Alternative splice isoforms for FTCD Gene


neXtProt entry for FTCD Gene

Post-translational modifications for FTCD Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for FTCD Gene

Domains & Families for FTCD Gene

Gene Families for FTCD Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for FTCD Gene

GenScript: Design optimal peptide antigens:
  • Formiminotransferase cyclodeaminase, isoform CRA_a (D3DSM8_HUMAN)
  • FTCD protein (Q49AR5_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • In the C-terminal section; belongs to the cyclodeaminase/cyclohydrolase family.
  • In the C-terminal section; belongs to the cyclodeaminase/cyclohydrolase family.
  • In the N-terminal section; belongs to the formiminotransferase family.
genes like me logo Genes that share domains with FTCD: view

Function for FTCD Gene

Molecular function for FTCD Gene

UniProtKB/Swiss-Prot Function:
Folate-dependent enzyme, that displays both transferase and deaminase activity. Serves to channel one-carbon units from formiminoglutamate to the folate pool.
UniProtKB/Swiss-Prot Function:
Binds and promotes bundling of vimentin filaments originating from the Golgi.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=5-formimidoyltetrahydrofolate + L-glutamate = (6S)-5,6,7,8-tetrahydrofolate + N-formimidoyl-L-glutamate; Xref=Rhea:RHEA:15097, ChEBI:CHEBI:29985, ChEBI:CHEBI:57453, ChEBI:CHEBI:57456, ChEBI:CHEBI:58928; EC=;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=5-formyltetrahydrofolate + L-glutamate = (6S)-5,6,7,8-tetrahydrofolate + H(+) + N-formyl-L-glutamate; Xref=Rhea:RHEA:23240, ChEBI:CHEBI:15378, ChEBI:CHEBI:17684, ChEBI:CHEBI:29985, ChEBI:CHEBI:57453, ChEBI:CHEBI:57457; EC=;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=5-formimidoyltetrahydrofolate + 2 H(+) = 5,10-methenyltetrahydrofolate + NH4(+); Xref=Rhea:RHEA:22736, ChEBI:CHEBI:15378, ChEBI:CHEBI:28938, ChEBI:CHEBI:57455, ChEBI:CHEBI:57456; EC=;.

Phenotypes From GWAS Catalog for FTCD Gene

Gene Ontology (GO) - Molecular Function for FTCD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0005515 protein binding IPI 25416956
GO:0005542 folic acid binding IEA --
GO:0008017 microtubule binding ISS --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with FTCD: view

Phenotypes for FTCD Gene

genes like me logo Genes that share phenotypes with FTCD: view

Human Phenotype Ontology for FTCD Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for FTCD - Now 50% OFF >
  • * FTCD as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * FTCD tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
  • Addgene plasmids for FTCD

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for FTCD Gene

Localization for FTCD Gene

Subcellular locations from UniProtKB/Swiss-Prot for FTCD Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Golgi apparatus. Note=More abundantly located around the mother centriole.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FTCD gene
Compartment Confidence
cytosol 5
plasma membrane 4
endoplasmic reticulum 4
golgi apparatus 4
cytoskeleton 3
nucleus 2
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FTCD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane ISS --
GO:0005737 cytoplasm TAS 10029623
GO:0005783 endoplasmic reticulum ISS --
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment ISS --
GO:0005794 Golgi apparatus ISS --
genes like me logo Genes that share ontologies with FTCD: view

Pathways & Interactions for FTCD Gene

genes like me logo Genes that share pathways with FTCD: view

UniProtKB/Swiss-Prot O95954-FTCD_HUMAN

  • Pathway: Amino-acid degradation; L-histidine degradation into L-glutamate; L-glutamate from N-formimidoyl-L-glutamate (transferase route): step 1/1.
  • Pathway: One-carbon metabolism; tetrahydrofolate interconversion.

Gene Ontology (GO) - Biological Process for FTCD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006547 histidine metabolic process IEA --
GO:0006548 histidine catabolic process TAS --
GO:0006760 folic acid-containing compound metabolic process TAS 10029623
GO:0007010 cytoskeleton organization IEA --
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with FTCD: view

No data available for SIGNOR curated interactions for FTCD Gene

Drugs & Compounds for FTCD Gene

(10) Drugs for FTCD Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glutamic Acid Approved Nutra Full agonist, Agonist, Target 272
Pyridoxal Phosphate Approved, Investigational Nutra Target, cofactor 22
leucovorin Approved Pharma 3735,1325
Ammonia Approved Pharma 0
Famotidine Approved Pharma Histamine H2-receptor antagonist 69

(6) Additional Compounds for FTCD Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
5,10-Methenyltetrahydrofolic acid
  • 5,10-Methenyl-THF
  • 5,10-Methenyltetrahydrofolate
  • anhydro-Leucovorin
  • anhydro-Leucovorin a
  • Anhydroleucovorin
5-Formiminotetrahydrofolic acid
  • 5-Formimidoyltetrahydrofolate
  • 5-Formimidoyltetrahydrofolic acid
  • 5-Formiminotetrahydrofolate
Formiminoglutamic acid
  • N-Formimidoyl-L-glutamate
  • N-formimino-L-Glutamate
  • N-Formimidoyl-L-glutamic acid
  • Formiminoglutamate
  • N-formimino-L-Glutamic acid
Hydrogen Ion
  • H+
  • H(+)
  • Hydrogen cation
  • Hydron
  • Proton
N-Formyl-L-glutamic acid
  • (2S)-2-(formylamino)Pentanedioic acid
  • N-Formyl-L-glutamate
  • (2S)-2-(formylamino)Pentanedioate
  • (2S)-2-Formamidopentanedioate
  • (2S)-2-Formamidopentanedioic acid
genes like me logo Genes that share compounds with FTCD: view

Transcripts for FTCD Gene

Unigene Clusters for FTCD Gene

Formiminotransferase cyclodeaminase:
Representative Sequences:

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for FTCD - Now 50% OFF >
  • * FTCD as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * FTCD tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
  • Addgene plasmids for FTCD

Alternative Splicing Database (ASD) splice patterns (SP) for FTCD Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15a · 15b · 15c · 15d ^ 16
SP1: - - - - - -
SP2: - - - - - -
SP3: - - -
SP4: - - - -
SP5: - - - - -
SP6: - - -
SP7: - -
SP8: -

Relevant External Links for FTCD Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for FTCD Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FTCD Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FTCD Gene

This gene is overexpressed in Liver (x36.1) and Kidney - Cortex (x9.2).

Protein differential expression in normal tissues from HIPED for FTCD Gene

This gene is overexpressed in Liver (32.9), Liver, secretome (21.9), and Fetal Liver (8.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FTCD Gene

Protein tissue co-expression partners for FTCD Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FTCD Gene:


SOURCE GeneReport for Unigene cluster for FTCD Gene:


Evidence on tissue expression from TISSUES for FTCD Gene

  • Liver(4.7)
  • Kidney(4.5)
  • Blood(2)
  • Nervous system(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FTCD Gene

Germ Layers:
  • ectoderm
  • mesoderm
  • cardiovascular
  • immune
  • nervous
  • urinary
Head and neck:
  • brain
  • head
  • kidney
  • blood
  • red blood cell
  • white blood cell
genes like me logo Genes that share expression patterns with FTCD: view

No data available for mRNA Expression by UniProt/SwissProt for FTCD Gene

Orthologs for FTCD Gene

This gene was present in the common ancestor of chordates.

Orthologs for FTCD Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia FTCD 35 34
  • 99.38 (n)
(Canis familiaris)
Mammalia FTCD 35 34
  • 84.66 (n)
(Bos Taurus)
Mammalia FTCD 35 34
  • 84.47 (n)
(Rattus norvegicus)
Mammalia Ftcd 34
  • 80.71 (n)
(Mus musculus)
Mammalia Ftcd 17 35 34
  • 80.35 (n)
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 65 (a)
(Gallus gallus)
Aves FTCD 35 34
  • 70.49 (n)
(Anolis carolinensis)
Reptilia -- 35
  • 70 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ftcd 34
  • 65.37 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC64458 34
(Danio rerio)
Actinopterygii ftcd 35 34
  • 64.51 (n)
zgc63647 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.541 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 53 (a)
Cin.6912 34
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6912 34
Species where no ortholog for FTCD was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FTCD Gene

Gene Tree for FTCD (if available)
Gene Tree for FTCD (if available)
Evolutionary constrained regions (ECRs) for FTCD: view image

Paralogs for FTCD Gene

Paralogs for FTCD Gene

genes like me logo Genes that share paralogs with FTCD: view

Variants for FTCD Gene

Sequence variations from dbSNP and Humsavar for FTCD Gene

SNP ID Clin Chr 21 pos Variation AA Info Type
rs10432965 benign, GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY, Collagen VI-related myopathy, Myosclerosis 46,137,308(-) G/A coding_sequence_variant, genic_downstream_transcript_variant, non_coding_transcript_variant, synonymous_variant
rs1047179 benign, not specified, GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY 46,138,559(-) G/C/T coding_sequence_variant, genic_downstream_transcript_variant, non_coding_transcript_variant, synonymous_variant
rs112148465 uncertain-significance, GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY 46,150,412(-) G/A coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs114980528 uncertain-significance, likely-benign, GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY, Myosclerosis, Collagen VI-related myopathy 46,136,482(-) G/T 3_prime_UTR_variant, coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs116089237 benign-likely-benign, benign, GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY, not specified 46,151,896(-) T/A coding_sequence_variant, missense_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for FTCD Gene

Variant ID Type Subtype PubMed ID
dgv255n21 CNV gain 19592680
esv1494368 CNV insertion 17803354
esv2361731 CNV deletion 18987734
esv23673 CNV loss 19812545
esv2674011 CNV deletion 23128226
esv2723899 CNV deletion 23290073
esv2723900 CNV deletion 23290073
esv2723901 CNV deletion 23290073
esv3647162 CNV gain 21293372
nsv1060978 CNV gain 25217958
nsv1061087 CNV loss 25217958
nsv1072192 CNV deletion 25765185
nsv1073140 CNV deletion 25765185
nsv1112809 CNV deletion 24896259
nsv1121594 CNV deletion 24896259
nsv1132912 CNV insertion 24896259
nsv1149865 CNV deletion 26484159
nsv470910 CNV gain 18288195
nsv470911 CNV loss 18288195
nsv509804 CNV insertion 20534489
nsv513580 CNV insertion 21212237
nsv525728 CNV loss 19592680
nsv587952 CNV loss 21841781
nsv587953 CNV loss 21841781
nsv821035 CNV duplication 20802225
nsv828916 CNV loss 20364138
nsv953658 CNV deletion 24416366

Variation tolerance for FTCD Gene

Residual Variation Intolerance Score: 95% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.61; 72.51% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FTCD Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
Human Gene Mutation Database (HGMD)

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FTCD Gene

Disorders for FTCD Gene

MalaCards: The human disease database

(9) MalaCards diseases for FTCD Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
glutamate formiminotransferase deficiency
  • formiminotransferase deficiency
autoimmune hepatitis
  • autoimmune chronic active hepatitis
collagen vi-related myopathy
  • collagen type vi-related disorders
amelogenesis imperfecta, type ie
  • ai1e
amelogenesis imperfecta, type ib
  • ai1b
- elite association - COSMIC cancer census association via MalaCards
Search FTCD in MalaCards View complete list of genes associated with diseases


  • Glutamate formiminotransferase deficiency (FIGLU-URIA) [MIM:229100]: 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. {ECO:0000269 PubMed:12815595}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for FTCD

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with FTCD: view

No data available for Genatlas for FTCD Gene

Publications for FTCD Gene

  1. Cloning and characterization of human FTCD on 21q22.3, a candidate gene for glutamate formiminotransferase deficiency. (PMID: 10773664) Solans A … de la Luna S (Cytogenetics and cell genetics 2000) 2 3 4 23 58
  2. Formiminotransferase cyclodeaminase is an organ-specific autoantigen recognized by sera of patients with autoimmune hepatitis. (PMID: 10029623) Lapierre P … Alvarez F (Gastroenterology 1999) 2 3 4 23 58
  3. The molecular basis of glutamate formiminotransferase deficiency. (PMID: 12815595) Hilton JF … Rosenblatt DS (Human mutation 2003) 3 4 23 58
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 45 58
  5. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PMID: 20634891) Jugessur A … Murray JC (PloS one 2010) 3 45 58

Products for FTCD Gene

Sources for FTCD Gene

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