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  3. FTCD - formimidoyltransferase cyclodeaminase Gene

FTCD - formimidoyltransferase cyclodeaminase Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as LCHC1

Gene ID: 10841 | Gene type: protein coding

About FTCD

Cytogenetic location: 21q22.3 Genomic coordinates (GRCh38): 21:46,136,262-46,155,579 (from NCBI)

This gene has 12 transcripts (splice variants), 1 gene allele, 197 orthologues, 1 paralogue and is associated with 3 phenotypes. Biased expression in liver (RPKM 54.7), kidney (RPKM 35.5) and 1 other tissue.

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]

FTCD Products(3)

mRNA Protein Name
NM_001320412.2 NP_001307341.1 formimidoyltransferase-cyclodeaminase isoform C
NM_006657.3 NP_006648.1 formimidoyltransferase-cyclodeaminase isoform A
NM_206965.2 NP_996848.1 formimidoyltransferase-cyclodeaminase isoform A

FTCD Protein Structure

FTCD_N

FTCD_N: Formiminotransferase domain, N-terminal subdomain (3 - 180)

FTCD

FTCD: Formiminotransferase domain (181 - 325)

FTCD_C

FTCD_C: Formiminotransferase-cyclodeaminase (339 - 521)

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  • 541 a.a.
Protein Preferred Names Protein Names

formimidoyltransferase-cyclodeaminase

formiminotransferase-cyclodeaminase

Recombinant FTCD Proteins

Cat. No. Product Name Accession Purity
HY-P76352 FTCD Protein, Human (sf9, His) O95954-1 (M1-E541) ≥95%

Related Diseases

Diseases Alias
Glutamate Formiminotransferase Deficiency

Formiminoglutamic Aciduria

Formiminotransferase Deficiency

FIGLU-URIA

Arakawa Syndrome 1

Formiminoglutamic Acidemia

Formiminotransferase Cyclodeaminase Deficiency

Formiminotransferase Deficiency Syndrome

Ftcd Deficiency

Formiminoglutamicaciduria

Figluria
Autoimmune Hepatitis

Aih

Hepatitis, Autoimmune

Autoimmune Chronic Active Hepatitis

Autoimmune Hepatitis With Centrilobular Necrosis

Autoimmune Chronic Hepatitis

Hepatitis Autoimmune
Schindler Disease, Type I

Schindler Disease Type 1

Alpha-N-Acetylgalactosaminidase Deficiency Type 1

Schindler Disease Type 3

Alpha-N-Acetylgalactosaminidase Deficiency Type 3

Naga Deficiency Type 3

Neuroaxonal Dystrophy, Schindler Type

Naga Deficiency Type 1

Alpha-N-Acetylgalactosaminidase Deficiency, Type I

Naga Deficiency, Type I

Schindler Disease, Type Iii

N-Acetyl-Alpha-D-Galactosaminidase Deficiency Type Iii

Alpha-N-Acetylgalactosaminidase Deficiency, Type 1

Naga Deficiency, Type 1

Schindler Disease Type I

Schindler Disease

SCHIND

Schindler Disease, Type 3

Schindler Disease, Type 1
Amelogenesis Imperfecta, Type Ib

AI1B

Aih2

Amelogenesis Imperfecta Type 1b

Amelogenesis Imperfecta Type Ib

Hereditary Localized Enamel Hypoplasia

Amelogenesis Imperfecta - Hypoplastic Autosomal Dominant - Local

Amelogenesis Imperfecta, Hypoplastic Local, Autosomal Dominant

Enamel Hypoplasia, Hereditary Localized

Autosomal Dominant Hypoplastic Local Amelogenesis Imperfecta

Amelogenesis Imperfecta 1b

Amelogenesis Imperfecta Hypoplastic 2

Amelogenesis Imperfecta Hypoplastic Local Autosomal Dominant
Amelogenesis Imperfecta, Type Ie

Aih1

Amelogenesis Imperfecta Type 1e

AI1E

Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 1

Amelogenesis Imperfecta, Hypomaturation Type, With Snow-Capped Teeth

Enamel Hypoplasia, X-Linked

Amelogenesis Imperfecta Type Ie

Amelogenesis Imperfecta Hypoplastic/Hypomaturation X-Linked 1

Enamel Hypoplasia X-Linked

Amelogenesis Imperfecta, X-Linked 1

Amelogenesis Imperfecta, Type 1e

Amelogenesis Imperfecta Hypomaturationtype With Snow-Capped Teeth

X-Linked Amelogenesis Imperfecta 1

X-Linked Amelogenesis Imperfecta Hypoplastic/Hypomaturation 1

X-Linked Enamel Hypoplasia

Amelogenesis Imperfecta X-Linked 1

Amelogenesis Imperfecta 1e

Amelogenesis Imperfecta, Hypoplastic/Hypomaturation Type 1e

Amelogenesis Imperfecta Hypomaturation Type With Snow-Capped Teeth

Xai

X-Linked Amelogenesis Imperfecta

Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Megaloblastic Anemia

Imerslund-Grasbeck Syndrome

Igs

Defect Of Enterocyte Intrinsic Factor Receptor

Enterocyte Cobalamin Malabsorption

Familial Megaloblastic Anemia

Megaloblastic Anemia 1

Selective Cobalamin Malabsorption With Proteinuria

Imerslund-Gräsbeck Syndrome

Anemia, Megaloblastic

Grasbeck-Imerslund Syndrome

Megaloblastic Anaemia

Mga1 Norwegian Type

Recessive Hereditary Megaloblastic Anaemia 1

Recessive Hereditary Megaloblastic Anemia 1

Rh-Mga1

Gräsbeck-Imerslund Disease

Pernicious Anemia, Juvenile, Due To Selective Intestinal Malabsorption Of Vitamin B12, With Proteinuria

Juvenile Pernicious Anemia With Proteinuria Due To Selective Intestinal Malabsorption Of Vitamin B12

Anemia Megaloblastic

Megaloblastic Anemia Due To Inborn Errors Of Metabolism

3-@Methylglutaconic Aciduria, Type I
Trombiculiasis
Glycine N-Methyltransferase Deficiency

GNMT DEFICIENCY

Hypermethioninemia Due To Glycine N-Methyltransferase Deficiency

Hypermethioninemia Due To Gnmt Deficiency

Hypermethioninemia

Hepatic Methionine Adenosyltransferase Deficiency
Tobacco Addiction

Nicotine Dependence

Tobacco Addiction, Susceptibility To

Nicotine Addiction

Tobacco Use Disorder

Smoking Habit

Nicotine Dependence, Protection Against

Nicotine Addiction, Protection From

Cigarette Habituation

Cigarette Habituation, Susceptibility To

Smoking Habit, Susceptibility To

Nicotine Dependence, Susceptibility To

Nicotine Addiction, Susceptibility To

Addiction, Tobacco, Susceptibility To

Compulsive Tobacco User Syndrome

Tobacco Dependence

Tobacco Dependence Syndrome

Cigarette Addiction

Cigarette Dependence

Smoking Addiction

Smokers Syndrome
Histidine Metabolism Disease

Disturbances Of Histidine Metabolism

Disorder Of Histidine Metabolism

Disturbance Of Histidine Metabolism
Substance Dependence
Glycogen Storage Disease

Glycogenosis

Glycogenoses

Gsd

Storage Disease, Glycogen

Gsd - [Glycogen Storage Disease]

Glycogen Thesaurismosis

Diffuse Glycogenosis

Generalised Glycogen Storage Disease

Generalised Glycogenosis

Generalised Glycogen Storage Disease Of Infants

Glycogen Synthase Deficiency
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS05132 FTCD Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Mus musculus FTCD MGD MGI:1339962
Macaca mulatta FTCD VGNC VGNC:72825
Bos taurus FTCD VGNC VGNC:29137
Rattus norvegicus FTCD RGD RGD:70915
Felis catus FTCD VGNC VGNC:62383
Canis familiaris FTCD VGNC VGNC:41002
Others FTCD NCBI