Gene
MDH1
malate dehydrogenase 1
- HGNC 6970↗(opens in a new tab)
- Ensembl gene ENSG00000014641↗(opens in a new tab)
- NCBI Gene 4190↗(opens in a new tab)
Summary
- Cytogenetic location
- 2p15
- Coordinates
- Chromosome 2: 63,588,963–63,607,197 (GRCh38)
- Exons
- 9 exons across 18.2 kb
- Protein
- 334 amino acids
- MANE Select transcript
- ENST00000233114.13NM_005917.4
- 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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How MDH1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- 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 1.3 kb of the gene's 18.2 kb; 1,005 of those bases code for the protein.
Traits linked to MDH1
The Human Phenotype Ontology lists these as features of the rare conditions MDH1 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.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
Cite this page
Dante Labs. (n.d.). MDH1 gene: malate dehydrogenase 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/mdh1
Dante Labs. MDH1 gene: malate dehydrogenase 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/mdh1
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