Skip to content
Use your HSA or FSA funds

Gene

TTPA

alpha tocopherol transfer protein

Summary

Cytogenetic location
8q12.3
Coordinates
Chromosome 8: 63,059,488–63,086,053 (GRCh38)
Exons
5 exons across 26.6 kb
Protein
278 amino acids
Inheritance
Autosomal recessive
Previous symbols
AVED
MANE Select transcript
ENST00000260116.5NM_000370.3
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

    • 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 TTPA is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 8, with a bracket where TTPA sits. TTPA and 3 genes near it on chromosome 8, from 62,572,771 to 63,572,770.Chromosome 88q12.3p23.3p23.2p23.1p22p21.3p21.2p21.1p12p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.3q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.362.6 Mb62.8 Mb63 Mb63.2 Mb63.4 MbNKAIN3: 62,248,591–63,014,006, forward strandNKAIN3GGH: 63,014,881–63,039,407, reverse strandGGHTTPA: 63,059,488–63,086,053, reverse strandTTPAYTHDF3: 63,168,260–63,212,786, forward strandYTHDF3Diagram of TTPA: 5 exons on the reverse strand of chromosome 8Exon 5: 1 known disease-causing siteExon 4: 4 known disease-causing sitesExon 3: 11 known disease-causing sitesExon 2: 13 known disease-causing sitesExon 1: 19 known disease-causing sitesExon 5: 63,059,488–63,061,425, 1,938 basesExon 4: 63,064,206–63,064,316, 111 basesExon 3: 63,065,904–63,066,097, 194 basesExon 2: 63,072,935–63,073,088, 154 basesExon 1: 63,085,818–63,086,053, 236 bases543215′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 2.6 kb of the gene's 26.6 kb; 837 of those bases code for the protein.

    How a genome test reads TTPA

    55

    positions in TTPA 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 26.6 kb of TTPA, introns included, not only the 2.6 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.). TTPA gene: alpha tocopherol transfer protein. Retrieved 17 October 2026, from https://dantelabs.com/genes/ttpa

    Vancouver

    Dante Labs. TTPA gene: alpha tocopherol transfer protein [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/ttpa

    One test. A lifetime of answers.

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

    Get my Genome Test