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FLASH GENE

Symbol

MTRR

contributors: mct - updated : 15-05-2014

HGNC name	5-methyltetrahydrofolate-homocysteine methyltransferase reductase
HGNC id	7473

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	MTRRD 5-methyltetrahydrofolate-homocysteine methyltransferase reductase deficiency
Location	5p15.31      Physical location : 7.869.216 - 7.901.233
Synonym name	methionine synthase reductase
Synonym symbol(s)	MGC129643, MSR, CBle
EC.number	2.1.1.135/ 1.16.1.8

DNA

TYPE	functioning gene
STRUCTURE	32.02 kb     15 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

confirmed

Map	pter - D5S785 - D5S1434 - D5S405 - D5S1492 - D5S675 - D5S2088 - D5S1906 - [D5S406 - D5S1970 - D5S727 - D5S1921 - D5S760 - D5S731 - D5S13 - D5S417 - D5S15 - D5S464 - D5S1892 - D5S635 - D5S2373 - D5S1455 - SRD5A1 - D5S2465 ] - D5S1980 - D5S1953 - D5S676 - D5S2492 -cen
Authors	peterson (99)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002454 15 - 3317 NP_002445 - 698 - 1999 10564814 NM_024010 15 - 3291 NP_076915 - 725 - 1999 10564814

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine parathyroid       highly Nervous brain       highly Reproductive female system uterus cervix   highly Respiratory respiratory tract trachea     highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	FMN, FAD, NADPH binding sites
	a FAD-binding domain
	a flavodoxin-like domain

HOMOLOGY

interspecies

homolog to C.elegans methionine synthase reductase

intraspecies

homolog to cytochrome p450 reductase

Homologene

FAMILY

FNR family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,cytoplasm,cytoskeleton,intermed filament
	intracellular,nucleus

basic FUNCTION	5-methyltetrahydrofolate-homocysteine methyltransferase reductase
	activating cobalamin-dependent methionine synthase
	regenerating a functional methionine synthase via reductive methylation
	required for electron transfer from NADP to cytochrome p450 in microsomes

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

aminoacid

signaling

sulfur

a component

INTERACTION

DNA

RNA

small molecule	cofactor,
	FAD and FMN

protein

serves as a special chaperone for MTR

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

MTRRD

Susceptibility

risk factor for neural tube defect, NTD, (combined with low cobalamin) to coronary artery disease (CAD) to migraine with aura

Variant & Polymorphism other	66A>G exert a protective effect on neural tube defect
	MTRR variants may protect against migraine with aura in an older population
	MTRR A66G polymorphism, but not MTR A2756G, is significantly associated with maternal risk for NTDs in Caucasians

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS