Normal Function
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The MTR gene provides instructions for making an enzyme called methionine synthase. This enzyme plays a role in processing amino acids, the building blocks of proteins. Specifically, methionine synthase carries out a chemical reaction that converts the amino acid homocysteine to another amino acid called methionine. The body uses methionine to make proteins and other important compounds. To function properly, methionine synthase requires methylcobalamin (a form of vitamin B12) and another enzyme called methionine synthase reductase, which is produced from the MTRR gene.
Health Conditions Related to Genetic Changes
Homocystinuria
More than 20 mutations in the MTR gene have been identified in people with homocystinuria. Many of these mutations lead to the production of an abnormally small, nonfunctional version of methionine synthase. Other mutations change single amino acids in the enzyme. One of the most common mutations replaces the amino acid proline with the amino acid leucine at position 1173 (written as Pro1173Leu or P1173L), resulting in an enzyme with reduced function. Without functional methionine synthase, homocysteine cannot be converted to methionine. As a result, homocysteine builds up in the bloodstream, and the amount of methionine is reduced. Some of the excess homocysteine is excreted in urine. Researchers have not determined how altered levels of homocysteine and methionine lead to the health problems associated with homocystinuria.
More About This Health ConditionMtrs Retirement Chart
Other disorders
A specific version (variant) of the MTR gene has been associated with various health problems before birth. The variant replaces one building block of DNA (nucleotide) called adenine with the nucleotide guanine at position 2756 in the MTR gene (written as A2756G). This variant has been associated with an increased risk of birth defects that occur during the development of the brain and spinal cord (neural tube defects). Some studies have suggested that the variant also increases the risk of having a child with Down syndrome, which is a condition characterized by intellectual disability and associated health problems, but other studies found no increased risk. Researchers do not know why there may be a connection between the A2756G variant of the MTR gene and the risk of neural tube defects or Down syndrome. Many factors play a part in determining the risk of these complex disorders.
Other Names for This Gene
- 5-methyltetrahydrofolate-homocysteine methyltransferase 1
- 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase
- cblG
- cobalamin-dependent methionine synthase
- Homocysteine-methyl tetrahydrofolate methyltransferase
- METH_HUMAN
- Methionine Synthase
- Tetrahydropteroylglutamate Methyltransferase
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
- Tests of MTR
Catalog of Genes and Diseases from OMIM
References
- Bosco P, Guéant-Rodriguez RM, Anello G, Barone C, Namour F, Caraci F, RomanoA, Romano C, Guéant JL. Methionine synthase (MTR) 2756 (A --> G) polymorphism,double heterozygosity methionine synthase 2756 AG/methionine synthase reductase(MTRR) 66 AG, and elevated homocysteinemia are three risk factors for having achild with Down syndrome. Am J Med Genet A. 2003 Sep 1;121A(3):219-24. Citation on PubMed
- Carmel R, Green R, Rosenblatt DS, Watkins D. Update on cobalamin, folate, and homocysteine. Hematology Am Soc Hematol Educ Program. 2003:62-81. Review. Citation on PubMed
- Doolin MT, Barbaux S, McDonnell M, Hoess K, Whitehead AS, Mitchell LE.Maternal genetic effects, exerted by genes involved in homocysteineremethylation, influence the risk of spina bifida. Am J Hum Genet. 2002Nov;71(5):1222-6. Epub 2002 Oct 9. Citation on PubMed or Free article on PubMed Central
- Guéant-Rodriguez RM, Rendeli C, Namour B, Venuti L, Romano A, Anello G, Bosco P, Debard R, Gérard P, Viola M, Salvaggio E, Guéant JL. Transcobalamin andmethionine synthase reductase mutated polymorphisms aggravate the risk of neural tube defects in humans. Neurosci Lett. 2003 Jul 3;344(3):189-92. Citation on PubMed
- Watkins D, Ru M, Hwang HY, Kim CD, Murray A, Philip NS, Kim W, Legakis H, Wai T, Hilton JF, Ge B, Doré C, Hosack A, Wilson A, Gravel RA, Shane B, Hudson TJ,Rosenblatt DS. Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a commonmutation, P1173L. Am J Hum Genet. 2002 Jul;71(1):143-53. Epub 2002 May 30. Citation on PubMed or Free article on PubMed Central
What is MTR?
mtr combines the functionality of the 'traceroute' and 'ping' programs in a single network diagnostic tool.
As mtr starts, it investigates the network connection between the host mtr runs on and a user-specified destination host. After it determines the address of each network hop between the machines, it sends a sequence ICMP ECHO requests to each one to determine the quality of the link to each machine. As it does this, it prints running statistics about each machine. For a preview take a look at the screenshots.
mtr is distributed under the GNU General Public License. See the COPYING file for details.
Where to get MTR
mtr is now maintained in a git repository at github.
Alternatively you can get MTR from the BitWizard FTP site at ftp://ftp.bitwizard.nl/mtr/ or https://www.bitwizard.nl/mtr/files. I'm still struggling to make my new 'make a release script' adapt to the new situation with git. If the latest version is missing, and you can't get it from github for one reason or another, let me know and I'll have to make one for you manually.
Compatibility
Mtr uses autoconf. This should allow compatibility with a large range of operating systems. Feel free to report problems. We can then try to iron them out.
I don't have much experience in using autoconf. Therefore I'm eager to learn more about it, as it seems a very useful tool. I've been editing small sections of the autoconf files, but I welcome suggestions on how to do things better. There usually IS a way to do it better....
Compiling MTR
Mtrd
Compiling mtr should be as easy as 'make'. If it is harder for you, your computer is misconfigured, or there is a problem with mtr that we should take care of. Please report this kind of problems.
Questions / bugs / Mailing list.
mtr has moved to github as the bug tracking system. If you have a bug, preferably with a patch to fix it please enter it into the tracking system. MTR bugtracking at github.
The mailing list was dismantled when I noticed that ALL messages from the last two years were spam, and no serious messages at all were in the logs. Mail me or submit a bug request or preferably a patch. :-)
Binary distributions
Ryan's build and/or mirror apparenltly stopped working somewhere in 1999, 14 years ago and nobody noticed. Apparently not worth maintaining.
kanedaaa has packages up to slackware 12.1, also a while ago. Possiblybecause mtr is included in the distribution.
The debian distribution has mtr builtin, so it would be preferrable tojust use that.
The freebsd ports link still works and has a reasonably recent version.
- Ryan Weaver has been making RPMs for mtr. He puts them on his ftp site, which I mirror onto ftp://ftp.bitwizard.nl/mtr/rpms/ .
- kanedaaa builds slackware packages at: http://kaneda.bohater.net/slackware/packages/.
- The freeBSD team makes binaries at ftp://ftp.FreeBSD.org/pub/FreeBSD/ports/i386/packages-stable/net/ Substitute the correct packages-..-current if you are running a '-current' version. If anybody can tell me how I can get mirror to flatten the symlinks that they use, I'll mirror them here at BitWizard.
- The debian team makes binaries at ftp://ftp.debian.org/debian/dists/unstable/main/binary-i386/net/mtr_0.39-1.deb The mirror worked in 30 seconds, no problems there. So you can get the package from the BitWizard sitetoo.
- Michael Collard no longer builds and maintains x64_64 binaries at:http://members.iinet.net.au/~quadfour/projects.html. (the link is dead. I don'texpect Michael to still do this, If he does and you know the new location, tell me.)
If you want to contribute binaries in a way similar to this, feel free to volunteer.
Live on the web
Christian Pekeler had setup a web-frontend for running mtr from six (ormaybe more by now) different places around the globe. That seems to havegone offline now in 2020.
This is great for figuring out if your server is really down or just unreachable from part of the world. Of course, if all of Christian'sservers can reach your target, that doesn't guarantee that it is reachablefrom everywhere, but it does make it clear that a possible problem is not 'near' your server network-wise.
As that service has gone offline, a quick google search revealed severaldifferent services setup by others. So you may have to hop between a fewof those services to test the 'from different parts in the world' aspectthat used to be possible. In general the 'parts of the world are unreachable from some locations' problems seem to have reduced enormouslyover the last two decades. Such events are now very rare.
I searched for 'online mtr' and got decent results. (Top four results were valid).
History
MTR was written by Matt Kimball, with contributions by many people. Take a look at the 'AUTHORS' file in the distribution. Roger Wolff took over maintenance of MTR in october 1998.
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