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Gene

MTHFD1

methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1

Summary

Cytogenetic location
14q23.3
Coordinates
Chromosome 14: 64,388,353–64,460,025 (GRCh38)
Exons
28 exons across 71.7 kb
Protein
935 amino acids
Previous symbols
MTHFC, MTHFD
MANE Select transcript
ENST00000652337.1NM_005956.4
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 reports relevant to this gene

No Genome Test report reads MTHFD1 yet. The test sequences your whole genome, so your data includes it all the same.

How MTHFD1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 14, with a bracket where MTHFD1 sits. MTHFD1 and 11 genes near it on chromosome 14, from 63,924,189 to 64,924,188.Chromosome 1414q23.3p13p12p11.2p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.11q32.12q32.13q32.2q32.31q32.32q32.3364 Mb64.2 Mb64.4 Mb64.6 Mb64.8 MbSYNE2: 63,761,899–64,228,142, forward strandSYNE2ESR2: 64,084,232–64,338,112, reverse strandESR2MTHFD1: 64,388,353–64,460,025, forward strandMTHFD1ZBTB25: 64,430,818–64,505,232, reverse strandZBTB25AKAP5: 64,465,275–64,474,503, forward strandAKAP5ZBTB1: 64,502,152–64,533,690, forward strandZBTB1HSPA2: 64,535,905–64,546,173, forward strandHSPA2PPP1R36: 64,549,890–64,590,096, forward strandPPP1R36PLEKHG3: 64,704,102–64,750,249, forward strandPLEKHG3SPTB: 64,746,283–64,880,019, reverse strandSPTBCHURC1: 64,914,361–64,957,314, forward strandCHURC1CHURC1-FNTB: 64,914,485–65,061,803, forward strandCHURC1-FNTBDiagram of MTHFD1: 28 exons on the forward strand of chromosome 14Exon 3: 3 known disease-causing sitesExon 5: 2 known disease-causing sitesExon 6: 1 known disease-causing siteExon 7: 1 known disease-causing siteExon 8: 1 known disease-causing siteExon 9: 2 known disease-causing sitesExon 18: 1 known disease-causing siteExon 1: 64,388,353–64,388,468, 116 basesExon 2: 64,400,793–64,400,877, 85 basesExon 3: 64,411,090–64,411,149, 60 basesExon 4: 64,412,472–64,412,525, 54 basesExon 5: 64,415,358–64,415,494, 137 basesExon 6: 64,415,639–64,415,739, 101 basesExon 7: 64,417,888–64,418,024, 137 basesExon 8: 64,419,814–64,419,925, 112 basesExon 9: 64,424,804–64,424,931, 128 basesExon 10: 64,425,730–64,425,827, 98 basesExon 11: 64,426,019–64,426,192, 174 basesExon 12: 64,427,337–64,427,473, 137 basesExon 13: 64,430,184–64,430,230, 47 basesExon 14: 64,431,532–64,431,639, 108 basesExon 15: 64,431,787–64,431,861, 75 basesExon 16: 64,435,569–64,435,671, 103 basesExon 17: 64,439,096–64,439,172, 77 basesExon 18: 64,440,126–64,440,266, 141 basesExon 19: 64,441,385–64,441,453, 69 basesExon 20: 64,442,054–64,442,165, 112 basesExon 21: 64,442,263–64,442,402, 140 basesExon 22: 64,444,693–64,444,734, 42 basesExon 23: 64,448,217–64,448,317, 101 basesExon 24: 64,449,445–64,449,622, 178 basesExon 25: 64,453,754–64,453,861, 108 basesExon 26: 64,454,723–64,454,875, 153 basesExon 27: 64,458,214–64,458,307, 94 basesExon 28: 64,459,759–64,460,025, 267 bases1510152025285′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 3.2 kb of the gene's 71.7 kb; 2,808 of those bases code for the protein.

How a genome test reads MTHFD1

14

positions in MTHFD1 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 71.7 kb of MTHFD1, introns included, not only the 3.2 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.
  • 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.). MTHFD1 gene: methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/mthfd1

Vancouver

Dante Labs. MTHFD1 gene: methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/mthfd1

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