FTCD - formimidoyltransferase cyclodeaminase Gene

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

FTCD_C

0
100
200
300
400
500
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 (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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05132	FTCD Human Pre-designed siRNA Set A		/	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