MTRR - 5-methyltetrahydrofolate-homocysteine methyltransferase reductase Gene

Homo sapiens

Also known as MSR; cblE

Gene ID: 4552 | Gene type: protein coding

About MTRR

Cytogenetic location: 5p15.31 Genomic coordinates (GRCh38): 5:7,850,859-7,901,113 (from NCBI)

This gene has 25 transcripts (splice variants), 216 orthologues, 5 paralogues and is associated with 4 phenotypes. Ubiquitous expression in lung (RPKM 14.2), kidney (RPKM 10.4) and 25 other tissues.

Summary

This gene encodes a member of the ferredoxin-NADP(+) reductase (FNR) family of electron transferases. This protein functions in the synthesis of methionine by regenerating methionine synthase to a functional state. Because methionine synthesis requires methyl-group transfer by a folate donor, activity of the encoded Enzyme is important for folate metabolism and cellular methylation. Mutations in this gene can cause homocystinuria-megaloblastic anemia, cbl E type. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2015]

MTRR Products(5)

mRNA	Protein	Name
NM_001364440.2	NP_001351369.1	methionine synthase reductase
NM_001364441.2	NP_001351370.1	methionine synthase reductase
NM_001364442.2	NP_001351371.1	methionine synthase reductase
NM_002454.3	NP_002445.2	methionine synthase reductase
NM_024010.4	NP_076915.3	methionine synthase reductase

MTRR Protein Structure

Flavodoxin_1

FAD_binding_1

NAD_binding_1

0
200
400
600
725 a.a.

Protein Preferred Names

Protein Names

methionine synthase reductase

[methionine synthase]-cobalamin methyltransferase (cob(II)alamin reducing)

Related Diseases

Diseases

Alias

Homocystinuria-Megaloblastic Anemia, Cble Complementation Type

Homocystinuria-Megaloblastic Anemia Due To Defect In Cobalamin Metabolism, Cble Complementation Type	Methylcobalamin Deficiency Type Cble
HMAE	Homocystinuria-Megaloblastic Anemia, Cbl E Type
Vitamin B12-Responsive Homocystinuria, Cble Type	Methylcobalamin Deficiency, Cble Type
Functional Methionine Synthase Deficiency Type Cble	Homocystinuria-Megaloblastic Anemia Due To Defect In Cobalamin Metabolism Cble Complementation Type
Methylcobalamin Deficiency Cble Type	Vitamin B12-Responsive Homocystinuria Cble Type
Anemia, Homocystinuria-Megaloblastic, Cble Complementation Type

Homocystinuria Without Methylmalonic Aciduria

Functional Methionine Synthase Deficiency

Methylcobalamin Deficiency

Neural Tube Defects, Folate-Sensitive

Neural Tube Defects, Folate-Sensitive, Susceptibility To	Neural Tube Defect, Folate-Sensitive
NTDFS	Ntd, Folate-Sensitive
Neural Tube Defects, Susceptibility To	Neural Tube Defects

Homocystinuria

Cystathionine Beta Synthase Deficiency	Homocysteinemia
Cbs Deficiency	Cystathionine Synthase Deficiency
Cystathionine Beta-Synthase Deficiency Disease

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

Hyperhomocysteinemia

Down Syndrome

Trisomy 21	Complete Trisomy 21 Syndrome
Down'S Syndrome	Trisomy 21 Syndrome
Down'S Syndrome - Trisomy 21	Downs Syndrome
G Trisomy	47,Xx,+21
47,Xy,+21	Trisomy G
Down Syndrome, Susceptibility To	Chromosome 21 Trisomy
Trisomy 21 Nos	Abnormal Autosomes 21

Neural Tube Defects

Spina Bifida	Neural Tube Defect
NTD	Neural Tube Defects, Susceptibility To
Spinal Dysraphism	Spina Bifida, Susceptibility To
Rachischisis	Cleft Spine
Open Spine	Hydrocele Spinalis
Neural Tube Defect Nos	Sb - [Spina Bifida]
Spinal Hernia Nos	Spinal Fissure Nos

Fallopian Tube Disease

Fallopian Tube Diseases

Urethral Syndrome

Urethral Disease	Urethral Diseases
Urethra Disease	Abnormality Of The Urethra
Urethral Disorders

Nondisjunction

Mosaicism, Chromosomal

Mixoploidy, Familial

Myelomeningocele

Meningomyelocele

Cleft Lip

Cheiloschisis	Labium Leporinum
Cleft Lip, Unilateral, Complete	Complete Unilateral Cleft Lip
Hare Lip	Congenital Fissure Of Lip
Isolated Cleft Lip	Cleft Lip Without Cleft Palate
Cleft Lip Without Cleft Palate, Unilateral	Isolated Cleft Lip, Unilateral
Cleft Lip Without Cleft Palate, Bilateral	Isolated Cleft Lip, Bilateral

Anencephaly

Aprosencephaly	Anencephalus
Congenital Absence Of Brain	Absence Of A Large Part Of The Brain And The Skull
Anencephalia	Anencephalic Monster
Brain Absence	Brain Agenesis
Brain Aplasia	Absent Brain
Anencephalic	Congenital Absence Of Cerebrum
Congenital Hemicrania	Incomplete Anencephaly

Homocysteinemia

Hyperhomocysteinemia

Urethritis

Nonspecific Urethritis	Non-Gonococcal Urethritis
Nongonococcal Urethritis

Ophthalmia Neonatorum

Gonococcal Conjunctivitis	Gonococcal Ophthalmia Neonatorum
Neonatal Conjunctivitis

Vascular Disease

Vascular Diseases	Aneurysm
Spinal Cord Ischemia	Vascular Anomaly
Spinal Cord Vascular Diseases	Vascular Tissue Disease

Migraine With Aura

Classic Migraine	Migraine With Typical Aura
Migraine Accompagnée	Complicated Migraine
Classical Migraine	Acute Migraine With Aura

Cerebrovascular Disease

Cerebrovascular Disorder	Cerebrovascular Accident
Cerebrovascular Disorders	Cva
Stroke

Methylmalonic Aciduria, Cbla Type

Methylmalonic Acidemia Cbla Type	Methylmalonic Aciduria Cbla Type
Methylmalonic Acidemia, Cbla Type	Methylmalonic Aciduria, Vitamin B12-Responsive, Due To Defect In Synthesis Of Adenosylcobalamin, Cbla Type
Methylmalonic Aciduria, Vitamin B12-Responsive, Cbla Type	Methylmalonic Aciduria, Vitamin B12-Responsive Due To A Defect In Synthesis Of Adenosylcobalamin Cb1a Type
Vitamin B12-Responsive Methylmalonic Acidemia Type Cbla	Vitamin B12-Responsive Methylmalonic Aciduria Type Cbla
Methylmalonic Aciduria Type Cbla	MMAA
Methylmalonic Aciduria Type A	Vitamin B12 Responsive Methylmalonic Acidemia Type Cbl A
Vitamin B12 Responsive Methylmalonic Aciduria Type Cbl A	Aciduria, Methylmalonic, Cbla Type
Methylmalonic Aciduria Cbla Type

Vitamin B12 Deficiency

Cobalamin Deficiency	Hypocobalaminemia
Vitamin B 12 Deficiency	Cyanocobalamin Deficiency
Deficiency Of Vitamin B12

Amino Acid Metabolic Disorder

Amino Acid Metabolism, Inborn Errors	Inborn Errors Of Amino Acid Metabolism
Disorder Of Amino Acid Metabolism	Amino Acid Metabolism Disorders

Vitamin Metabolic Disorder

Methylmalonic Acidemia

Methylmalonic Aciduria	Mma
Acidemia, Methylmalonic	Isolated Methylmalonic Acidemia

Neuropathy, Hereditary Sensory, Type Ie

HSN1E	Hsn Ie
Hereditary Sensory Neuropathy Type 1e	Hereditary Sensory Neuropathy Type Ie
Hsan 1	Neuropathy, Hereditary Sensory, With Hearing Loss And Dementia
Hereditary Sensory Neuropathy Type 1	Hsn1
Hereditary Sensory And Autonomic Neuropathy Type 1	Neuropathy Hereditary Sensory And Autonomic Type 1
Neuropathy Hereditary Sensory Radicular, Autosomal Dominant	Neuropathy, Hereditary Sensory, 1e
Neuropathy Hereditary Sensory With Hearing Loss And Dementia	Neuropathy, Hereditary Sensory, Type I
Neuropathy, Sensory, Hereditary, Type Ie	Hereditary Sensory And Autonomic Neuropathy Type Ie
Hereditary Sensory Autonomic Neuropathy, Type 1

Marfan Syndrome

MFS	Mfs1
Marfan'S Syndrome	Marfan Syndrome Type 1
Marfan Syndrome, Type I	Mass Phenotype
Contractural Arachnodactyly	Mass Syndrome
Octd	Overlap Connective Tissue Disease
Marfanoid Hypermobility Syndrome	Marfan Disease

Organic Acidemia

Organic Aciduria	Disorder Of Organic Acid Metabolism
Organic Acid Metabolism Disorder	Organic Acidemias
Inherited Organic Acidemia	Organic Acidurias
Aciduria Organic

Bacterial Conjunctivitis

Purulent Conjunctivitis

Conjunctivitis, Bacterial

Chromosomal Duplication Syndrome

Autism Spectrum Disorder

Asd	Autism Spectrum Disorders
Autistic Continuum	Pervasive Developmental Disorder
Pervasive Development Disorder	Autistic Behavior
Autistic Disorder	Autistic
Autistic Disorder Of Childhood Onset	Infantile Autism
Childhood Autism	Kanner Syndrome
Pervasive Developmental Delay Nos	Pervasive Developmental Disorder, Not Otherwise Specified

Cardiovascular System Disease

Abnormality Of The Cardiovascular System	Cardiovascular Disease
Disease Of Subdivision Of Hemolymphoid System	Disorder Of Cardiovascular System
Cardiovascular Diseases

Autism

Autistic Disorder	Autism Susceptibility 1
Childhood Autism	Autistic Disorder Of Childhood Onset
Infantile Autism	Kanner'S Syndrome
Autistic

Cleft Palate, Isolated

Cleft Palate	Isolated Cleft Palate
CPI	Cp
Palatoschisis	Cleft Palate Isolated
Uranostaphyloschisis	Congenital Fissure Of Palate
Cleft Of Secondary Palate

Lipoprotein Quantitative Trait Locus

Coronary Artery Disease	Coronary Artery Anomaly
Coronary Artery Disease, Susceptibility To	Myocardial Ischemia
Congenital Anomaly Of Coronary Artery	Coronary Arteriosclerosis
Coronary Disease	Coronary Heart Disease
Coronary Artery Disorder	LPAQTL
Lpa Deficiency, Congenital	Coronary Artery Abnormality
Coronary Artery Anomaly, Congenital	Chd
Coronary Syndrome	Congenital Malformations Of Coronary Vessels
Malformation Of Coronary Vessels	Congenital Coronary Artery Anomaly
Congenital Coronary Artery Deformity	Congenital Coronary Artery Disorder
Abnormal Coronary Artery	Congenital Coronary Artery Malposition
Congenital Coronary Disease	Congenital Anomaly Of Coronary Arteries

Orofacial Cleft

Cleft, Orofacial

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-RS08819	MTRR Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	MTRR	MGD	MGI:1891037
Canis familiaris	MTRR	VGNC	VGNC:49927
Rattus norvegicus	MTRR	RGD	RGD:1308671
Macaca mulatta	MTRR	VGNC	VGNC:75079
Bos taurus	MTRR	VGNC	VGNC:58606
Felis catus	MTRR	VGNC	VGNC:68355