Description

The MTR gene (5-methyltetrahydrofolate-homocysteine methyltransferase) [HGNC Gene ID:7468] is located on chromosome 1q43. This gene encodes the 5-methyltetrahydrofolate-homocysteine methyltransferase. This enzyme, also known as cobalamin-dependent methionine synthase, catalyzes the final step in methionine biosynthesis. Mutations in MTR have been identified as the underlying cause of methylcobalamin deficiency complementation group G. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014] [NCBI Gene ID:4548] Source: National Center for Biotechnology Information (NCBI) Gene

Basic Part Properties

Part Name
MTR gene
Part Display Name
MTR gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2015-01-05
Construct for LOINC Short Name
MTR

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP188507-0

Language Variants Get Info

TagLanguageTranslation
zh-CNChinese (China)MTR 基因
Synonyms: 5-甲基四氢叶酸-高半胱氨酸甲基转移酶;5-甲基四氢叶酸-同型半胱氨酸甲基转移酶;5-Methyltetrahydrofolate-Homocysteine Methyltransferase
es-ESSpanish (Spain)Gen MTR
it-ITItalian (Italy)MTR, gene
Synonyms: Gene MTR
tr-TRTurkish (Turkey)MTR geni
nl-NLDutch (Netherlands)MTR-gen
Synonyms: MTR gen
fr-FRFrench (France)MTR gène
pl-PLPolish (Poland)MTR gen
Synonyms: Gen MTR
el-GRGreek (Greece)Γονίδιο MTR
Synonyms: Γονίδιο MTR