Skip to content
Use your HSA or FSA funds

Gene

MMUT

methylmalonyl-CoA mutase

Summary

Cytogenetic location
6p12.3
Coordinates
Chromosome 6: 49,430,360–49,463,253 (GRCh38)
Exons
13 exons across 32.9 kb
Protein
750 amino acids
Inheritance
Autosomal recessive
Also known as
MCM
Previous symbols
MUT
MANE Select transcript
ENST00000274813.4NM_000255.4
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

  • Methylmalonic & Propionic Acidemia

    • Methylmalonic AcidemiaAutosomal recessive

      Caused by variants in MMUT, MMAA, MMAB, MCEE and related cobalamin-processing genes, which can cause vomiting, poor feeding, metabolic crises, developmental problems and kidney disease.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing allows specialist dietary management, carnitine, vitamin B12 for responsive forms and an emergency plan, which reduces the risk of crises.

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 MMUT is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 6, with a bracket where MMUT sits. MMUT and 8 genes near it on chromosome 6, from 48,946,807 to 49,946,806.Chromosome 66p12.3p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12q13q14.1q14.2q14.3q15q16.1q16.2q16.3q21q22.1q22.2q22.31q22.32q22.33q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q26q2749 Mb49.2 Mb49.4 Mb49.6 Mb49.8 MbMMUT: 49,430,360–49,463,253, reverse strandMMUTCENPQ: 49,463,335–49,495,815, forward strandCENPQGLYATL3: 49,499,923–49,528,078, forward strandGLYATL3C6orf141: 49,550,656–49,561,914, forward strandC6orf141RHAG: 49,605,157–49,636,839, reverse strandRHAGCRISP2: 49,692,358–49,714,703, reverse strandCRISP2CRISP3: 49,727,376–49,744,445, reverse strandCRISP3PGK2: 49,773,390–49,787,285, reverse strandPGK2CRISP1: 49,834,257–49,877,096, reverse strandCRISP1Diagram of MMUT: 13 exons on the reverse strand of chromosome 6Exon 13: 6 known disease-causing sitesExon 12: 12 known disease-causing sitesExon 11: 19 known disease-causing sitesExon 10: 7 known disease-causing sitesExon 9: 11 known disease-causing sitesExon 8: 7 known disease-causing sitesExon 7: 5 known disease-causing sitesExon 6: 28 known disease-causing sitesExon 5: 25 known disease-causing sitesExon 4: 15 known disease-causing sitesExon 3: 49 known disease-causing sitesExon 2: 27 known disease-causing sitesExon 13: 49,430,360–49,431,856, 1,497 basesExon 12: 49,435,456–49,435,623, 168 basesExon 11: 49,440,206–49,440,353, 148 basesExon 10: 49,441,840–49,441,971, 132 basesExon 9: 49,444,639–49,444,754, 116 basesExon 8: 49,447,670–49,447,785, 116 basesExon 7: 49,448,816–49,448,927, 112 basesExon 6: 49,451,466–49,451,714, 249 basesExon 5: 49,453,585–49,453,756, 172 basesExon 4: 49,456,080–49,456,237, 158 basesExon 3: 49,457,691–49,458,058, 368 basesExon 2: 49,459,082–49,459,505, 424 basesExon 1: 49,463,103–49,463,253, 151 bases131211109876543215′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 3.8 kb of the gene's 32.9 kb; 2,253 of those bases code for the protein.

How a genome test reads MMUT

234

positions in MMUT 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 32.9 kb of MMUT, introns included, not only the 3.8 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.). MMUT gene: methylmalonyl-CoA mutase. Retrieved 17 October 2026, from https://dantelabs.com/genes/mmut

Vancouver

Dante Labs. MMUT gene: methylmalonyl-CoA mutase [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/mmut

One test. A lifetime of answers.

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

Get my Genome Test