Gene
MTR
5-methyltetrahydrofolate-homocysteine methyltransferase
- HGNC 7468(opens in a new tab)
- Ensembl gene ENSG00000116984(opens in a new tab)
- NCBI Gene 4548(opens in a new tab)
Summary
- Cytogenetic location
- 1q43
- Coordinates
- Chromosome 1: 236,795,292–236,903,981 (GRCh38)
- Exons
- 33 exons across 108.7 kb
- Protein
- 1,265 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- cblG
- MANE Select transcript
- ENST00000366577.10NM_000254.3
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Homocystinuria & Cobalamin Disorders
- HomocystinuriaAutosomal recessive
Includes classic homocystinuria due to CBS deficiency, severe MTHFR deficiency and the combined and remethylation cobalamin disorders, which can cause lens dislocation, blood clots, skeletal changes, anaemia and developmental problems.
- ClinGen rates the link definitive
- 4 GenCC submitters rate it definitive or strong
What knowing changes
Knowing allows treatment with vitamin B6, B12, folate, betaine and diet as appropriate, which can prevent lens dislocation, thrombosis and other complications.
- Inborn Disorders of Cobalamin Metabolism and TransportAutosomal recessive
Includes defects in vitamin B12 absorption and transport such as Imerslund-Gräsbeck syndrome (CUBN, AMN), intrinsic factor deficiency (CBLIF) and transcobalamin II deficiency (TCN2), as well as intracellular cobalamin processing defects, which can cause megaloblastic anaemia, nerve damage and failure to thrive.
- ClinGen rates the link definitive
- 4 GenCC submitters rate it definitive or strong
What knowing changes
Knowing allows lifelong vitamin B12 injections or other cobalamin treatment, which can prevent anaemia and neurological damage.
Inheritance
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How MTR is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 10.5 kb of the gene's 108.7 kb; 3,798 of those bases code for the protein.
How a genome test reads MTR
99
positions in MTR where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 108.7 kb of MTR, introns included, not only the 10.5 kb of exons.
Traits linked to MTR
The Human Phenotype Ontology lists these as features of the rare conditions MTR can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). MTR gene: 5-methyltetrahydrofolate-homocysteine methyltransferase. Retrieved 16 October 2026, from https://dantelabs.com/genes/mtr
Dante Labs. MTR gene: 5-methyltetrahydrofolate-homocysteine methyltransferase [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/mtr
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