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Gene

MTTP

microsomal triglyceride transfer protein

Summary

Cytogenetic location
4q23
Coordinates
Chromosome 4: 99,574,824–99,623,997 (GRCh38)
Exons
18 exons across 49.2 kb
Protein
894 amino acids
Inheritance
Autosomal recessive
Also known as
ABL
Previous symbols
MTP
MANE Select transcript
ENST00000265517.10NM_001386140.1
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

  • Hereditary Hypolipoproteinemias

    • HypobetalipoproteinemiaAutosomal recessive

      Includes abetalipoproteinemia (MTTP), familial hypobetalipoproteinemia (APOB, ANGPTL3) and chylomicron retention disease (SAR1B); severe forms cause fat malabsorption and vitamin E deficiency leading to nerve and retinal damage, while mild carrier forms can simply lower LDL cholesterol and may increase liver fat.

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

      Knowing allows a low-fat diet with high-dose vitamin E and other fat-soluble vitamins in the severe forms, which can prevent or limit nerve and eye damage.

Broader groupings

  • Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)

    • Autosomal Recessive Cerebellar AtaxiaAutosomal recessive

      One of 57 genes linked to it

      A group of recessively inherited ataxias caused by biallelic variants in genes such as RFC1, FXN, SACS, TTPA, SETX, APTX, PNKP, ANO10 and SYNE1.

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

      Ataxia with vitamin E deficiency (TTPA) is treatable with vitamin E supplements; other forms are managed with physiotherapy and symptom care, and relatives can be offered carrier testing.

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 MTTP is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 4, with a bracket where MTTP sits. MTTP and 13 genes near it on chromosome 4, from 99,099,411 to 100,099,410.Chromosome 44q23p16.3p16.2p16.1p15.33p15.32p15.31p15.2p15.1p14p13p12p11q11q12q13.1q13.2q13.3q21.1q21.21q21.22q21.23q21.3q22.1q22.2q22.3q23q24q25q26q27q28.1q28.2q28.3q31.1q31.21q31.22q31.23q31.3q32.1q32.2q32.3q33q34.1q34.2q34.3q35.1q35.299.2 Mb99.4 Mb99.6 Mb99.8 Mb100 MbADH4: 99,123,502–99,157,792, reverse strandADH4ADH6: 99,202,424–99,219,537, reverse strandADH6ADH1A: 99,275,958–99,291,552, reverse strandADH1AADH1B: 99,304,971–99,321,659, reverse strandADH1BADH1C: 99,336,093–99,382,896, reverse strandADH1CADH7: 99,412,261–99,435,698, reverse strandADH7C4orf17: 99,511,012–99,542,303, forward strandC4orf17TRMT10A: 99,546,700–99,564,070, reverse strandTRMT10AMTTP: 99,574,824–99,623,997, forward strandMTTPC4orf54: 99,636,529–99,657,828, reverse strandC4orf54DAPP1: 99,816,729–99,872,335, forward strandDAPP1LAMTOR3: 99,874,948–99,894,428, reverse strandLAMTOR3DNAJB14: 99,896,248–99,946,726, reverse strandDNAJB14H2AZ1: 99,948,051–99,950,540, reverse strandH2AZ1Diagram of MTTP: 18 exons on the forward strand of chromosome 4Exon 1: 2 known disease-causing sitesExon 2: 12 known disease-causing sitesExon 3: 14 known disease-causing sitesExon 4: 9 known disease-causing sitesExon 5: 8 known disease-causing sitesExon 6: 15 known disease-causing sitesExon 7: 12 known disease-causing sitesExon 8: 6 known disease-causing sitesExon 9: 10 known disease-causing sitesExon 10: 11 known disease-causing sitesExon 11: 10 known disease-causing sitesExon 12: 12 known disease-causing sitesExon 13: 4 known disease-causing sitesExon 14: 8 known disease-causing sitesExon 15: 13 known disease-causing sitesExon 16: 9 known disease-causing sitesExon 17: 1 known disease-causing siteExon 18: 2 known disease-causing sitesExon 1: 99,574,824–99,574,970, 147 basesExon 2: 99,581,905–99,582,092, 188 basesExon 3: 99,583,374–99,583,517, 144 basesExon 4: 99,589,643–99,589,750, 108 basesExon 5: 99,591,235–99,591,351, 117 basesExon 6: 99,591,651–99,591,790, 140 basesExon 7: 99,594,733–99,594,883, 151 basesExon 8: 99,597,067–99,597,224, 158 basesExon 9: 99,600,565–99,600,733, 169 basesExon 10: 99,601,607–99,601,714, 108 basesExon 11: 99,606,748–99,606,960, 213 basesExon 12: 99,608,766–99,608,977, 212 basesExon 13: 99,611,143–99,611,240, 98 basesExon 14: 99,611,332–99,611,453, 122 basesExon 15: 99,612,913–99,613,140, 228 basesExon 16: 99,618,974–99,619,098, 125 basesExon 17: 99,621,061–99,621,231, 171 basesExon 18: 99,622,677–99,623,997, 1,321 bases1246810121416185′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 3.9 kb of the gene's 49.2 kb; 2,685 of those bases code for the protein.

How a genome test reads MTTP

178

positions in MTTP 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 49.2 kb of MTTP, introns included, not only the 3.9 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.). MTTP gene: microsomal triglyceride transfer protein. Retrieved 16 October 2026, from https://dantelabs.com/genes/mttp

Vancouver

Dante Labs. MTTP gene: microsomal triglyceride transfer protein [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/mttp

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