Skip to content
Use your HSA or FSA funds

Gene

MTHFS

methenyltetrahydrofolate synthetase

Summary

Cytogenetic location
15q25.1
Coordinates
Chromosome 15: 79,843,547–79,897,014 (GRCh38)
Exons
3 exons across 53.5 kb
Protein
203 amino acids
Also known as
HsT19268
MANE Select transcript
ENST00000258874.4NM_006441.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

    • Other Inherited Leukodystrophies

      • Leukodystrophy (other and unspecified types)

        One of 80 genes linked to it

        Inherited conditions that damage or prevent the normal formation of myelin, the white matter of the brain and spinal cord. Different types follow autosomal recessive, autosomal dominant or X-linked inheritance depending on the gene involved.

        • 2 GenCC submitters rate it definitive or strong
        What knowing changes

        Knowing the specific genetic cause can end a diagnostic search, guide supportive care and surveillance, show whether a specific treatment exists, and allow testing of relatives.

    How MTHFS is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 15, with a bracket where MTHFS sits. MTHFS and 7 genes near it on chromosome 15, from 79,370,281 to 80,370,280.Chromosome 1515q25.1p13p12p11.2p11.1q11.1q11.2q12q13.1q13.2q13.3q14q15.1q15.2q15.3q21.1q21.2q21.3q22.1q22.2q22.31q22.32q22.33q23q24.1q24.2q24.3q25.1q25.2q25.3q26.1q26.2q26.379.4 Mb79.6 Mb79.8 Mb80 Mb80.2 MbTMED3: 79,219,934–79,427,432, forward strandTMED3MINAR1: 79,431,003–79,472,304, forward strandMINAR1MTHFS: 79,843,547–79,897,014, reverse strandMTHFSST20-MTHFS: 79,845,150–79,923,754, reverse strandST20-MTHFSBCL2A1: 79,960,892–79,971,243, reverse strandBCL2A1ZFAND6: 80,058,894–80,140,292, forward strandZFAND6FAH: 80,152,292–80,186,990, forward strandFAHCTXND1: 80,195,481–80,252,268, reverse strandCTXND1Diagram of MTHFS: 3 exons on the reverse strand of chromosome 15Exon 3: 1 known disease-causing siteExon 2: 1 known disease-causing siteExon 1: 2 known disease-causing sitesExon 3: 79,843,547–79,845,442, 1,896 basesExon 2: 79,889,093–79,889,354, 262 basesExon 1: 79,896,872–79,897,014, 143 bases3215′3′

    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 2.3 kb of the gene's 53.5 kb; 612 of those bases code for the protein.

    How a genome test reads MTHFS

    4

    positions in MTHFS 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 53.5 kb of MTHFS, introns included, not only the 2.3 kb of exons.

    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

    APA

    Dante Labs. (n.d.). MTHFS gene: methenyltetrahydrofolate synthetase. Retrieved 17 October 2026, from https://dantelabs.com/genes/mthfs

    Vancouver

    Dante Labs. MTHFS gene: methenyltetrahydrofolate synthetase [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/mthfs

    One test. A lifetime of answers.

    From $449Free shipping · Results in 6–8 weeks

    Get my Genome Test