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FLASH GENE

Symbol

MTR

contributors: mct/pgu - updated : 15-05-2013

HGNC name	5-methyltetrahydrofolate-homocysteine methyltransferase
HGNC id	7468

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	HMAG homocystinuria-megaloblastic anemia, cblG complementation type
Location	1q43      Physical location : 236.958.580 - 237.067.280
Synonym name	methionine synthase
Synonym symbol(s)	METS, CBLG
EC.number	2.1.1.13

DNA

TYPE	functioning gene
STRUCTURE	108.71 kb     33 Exon(s)

Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

linked

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000254 33 - 10558 NP_000245 - 1265 - 2006 16769880

EXPRESSION

Type	ubiquitous

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 Digestive liver         Endocrine adrenal gland       highly   parathyroid       highly Hearing/Equilibrium ear       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous central

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

Homologene

FAMILY

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic

basic FUNCTION	catalyses the final step in methionine biosynthesis
	catalyzing the production of tetrahydrofolate and methionine

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

development , nervous system

PATHWAY

metabolism

signaling

sulfur

a component

INTERACTION

DNA

RNA

small molecule

protein

interaction of MTR with MMACHC that may play a role in the regulation of the cellular processing of Cbls that is required for Cbl cofactor synthesis

cell & other

REGULATION

Other

methylcobolamin dependent

ASSOCIATED DISORDERS

corresponding disease(s)

HMAG

Susceptibility

no evidence of association with neural tube defects (NTD) in Netherlands and U.K, may be slightly increasing the susceptibility associated with MTHFR polymorphism susceptibility to non-syndromic cleft lip and palate to abdominal aortic aneurysm to coronary artery disease (CAD) to hearing impairment in middle-aged and elderly Japanese to recurrent pregnancy loss (RPL)

Variant & Polymorphism SNP	2756A>C
	2756AG or GG increasing the risk of non-syndromic cleft lip and palate
	G allele in MTR A2756G increasing the risk of coronary artery disease (CAD)

Candidate gene	MTR A2756G polymorphism is a candidate gene polymorphism for cancer susceptibility regardless of environmental factors
	MTR 2756AA polymorphism was associated with RPL
Marker
Therapy target

ANIMAL & CELL MODELS