Skip to content
Use your HSA or FSA funds

Gene

MPV17

mitochondrial inner membrane protein MPV17

Summary

Cytogenetic location
2p23.3
Coordinates
Chromosome 2: 27,309,492–27,323,097 (GRCh38)
Exons
8 exons across 13.6 kb
Protein
176 amino acids
Also known as
SYM1
MANE Select transcript
ENST00000380044.6NM_002437.5
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

  • Primary Mitochondrial Disease

    • Mitochondrial DNA Depletion Syndrome

      Caused by variants in nuclear genes such as POLG, TWNK, TK2, DGUOK, MPV17, RRM2B and SUCLA2, which reduce the amount of mitochondrial DNA and can cause muscle, liver or brain disease.

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

      Knowing is directly actionable: valproate must be avoided in POLG disease because of the risk of fatal liver failure, and TK2 deficiency has a nucleoside therapy.

Broader groupings

  • Charcot-Marie-Tooth Disease

    • One of 62 genes linked to it

      A group of inherited peripheral neuropathies causing progressive weakness and wasting of the distal muscles and loss of sensation, mainly in the feet and hands.

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

      Genetic counseling, subtype-specific monitoring, physical therapy, orthotics, neurotoxic drug avoidance, gene-specific clinical trials, surveillance for associated features

How MPV17 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 2, with a bracket where MPV17 sits. MPV17 and 38 genes near it on chromosome 2, from 26,816,295 to 27,816,294.Chromosome 22p23.3p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.327 Mb27.2 Mb27.4 Mb27.6 Mb27.8 MbDPYSL5: 26,847,747–26,950,351, forward strandDPYSL5MAPRE3: 26,970,400–27,027,219, forward strandMAPRE3TMEM214: 27,032,910–27,041,697, forward strandTMEM214AGBL5: 27,042,364–27,070,622, forward strandAGBL5OST4: 27,058,735–27,073,830, reverse strandOST4EMILIN1: 27,078,044–27,086,408, forward strandKHK: 27,086,723–27,100,777, forward strandKHKCGREF1: 27,098,853–27,119,139, reverse strandABHD1: 27,123,789–27,130,812, forward strandABHD1PREB: 27,129,153–27,134,689, reverse strandPREBPRR30: 27,136,848–27,139,410, reverse strandPRR30TCF23: 27,148,999–27,156,974, forward strandTCF23SLC5A6: 27,199,587–27,212,958, reverse strandSLC5A6ATRAID: 27,212,012–27,217,178, forward strandATRAIDCAD: 27,217,345–27,245,683, forward strandCADSLC30A3: 27,253,509–27,275,817, reverse strandSLC30A3DNAJC5G: 27,275,430–27,281,499, forward strandTRIM54: 27,282,366–27,309,400, forward strandTRIM54UCN: 27,307,400–27,308,445, reverse strandUCNMPV17: 27,309,492–27,323,097, reverse strandMPV17GTF3C2: 27,324,198–27,357,566, reverse strandGTF3C2EIF2B4: 27,363,420–27,370,466, reverse strandEIF2B4SNX17: 27,370,496–27,377,535, forward strandSNX17ZNF513: 27,377,235–27,380,790, reverse strandZNF513PPM1G: 27,381,194–27,409,674, reverse strandNRBP1: 27,427,790–27,442,260, forward strandNRBP1KRTCAP3: 27,442,337–27,446,486, forward strandKRTCAP3IFT172: 27,444,374–27,489,839, reverse strandIFT172FNDC4: 27,491,260–27,495,631, reverse strandFNDC4GCKR: 27,496,055–27,523,688, forward strandGCKRSPATA31H1: 27,537,386–27,582,722, forward strandSPATA31H1ZNF512: 27,582,969–27,623,217, forward strandZNF512CCDC121: 27,625,535–27,629,018, reverse strandCCDC121GPN1: 27,628,247–27,652,152, forward strandGPN1SUPT7L: 27,642,568–27,663,847, reverse strandSUPT7LSLC4A1AP: 27,663,426–27,695,756, forward strandSLC4A1APMRPL33: 27,771,683–27,781,484, forward strandMRPL33: 27,771,739–27,988,087, forward strandRBKS: 27,780,857–27,890,681, reverse strandRBKSDiagram of MPV17: 8 exons on the reverse strand of chromosome 2Exon 8: 3 known disease-causing sitesExon 7: 6 known disease-causing sitesExon 6: 4 known disease-causing sitesExon 5: 11 known disease-causing sitesExon 4: 12 known disease-causing sitesExon 3: 14 known disease-causing sitesExon 2: 6 known disease-causing sitesExon 8: 27,309,492–27,309,981, 490 basesExon 7: 27,311,899–27,311,951, 53 basesExon 6: 27,312,214–27,312,246, 33 basesExon 5: 27,312,494–27,312,589, 96 basesExon 4: 27,312,680–27,312,772, 93 basesExon 3: 27,312,994–27,313,109, 116 basesExon 2: 27,322,448–27,322,522, 75 basesExon 1: 27,323,052–27,323,097, 46 bases864215′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 1 kb of the gene's 13.6 kb; 531 of those bases code for the protein.

How a genome test reads MPV17

72

positions in MPV17 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 13.6 kb of MPV17, introns included, not only the 1 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.). MPV17 gene: mitochondrial inner membrane protein MPV17. Retrieved 16 October 2026, from https://dantelabs.com/genes/mpv17

Vancouver

Dante Labs. MPV17 gene: mitochondrial inner membrane protein MPV17 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/mpv17

One test. A lifetime of answers.

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

Get my Genome Test