TTPA

Chr 8q12.3

alpha tocopherol transfer protein

MANE:: ENST00000260116.5

OMIM: 600415 ↗NCBI: 7274 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

TTPA · P49638

v62025-08-01

Predicted Aligned Error matrix for TTPA — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

94.1/ 100

Very high

278 residues

Confidence breakdown

Very high(≥ 90)92%
Confident(70–90)3%
Low(50–70)1%
Very low(< 50)3%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia
BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood
BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy
BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal
Retinal disorders

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Disease associations (Open Targets)

Ataxia with vitamin E deficiency
0.81
familial isolated deficiency of vitamin E
0.75
Rare hereditary ataxia
0.48
hereditary ataxia
0.46
Retinal dystrophy
0.45
hereditary disease
0.41
CHD7-related CHARGE syndrome
0.41
ovarian dysfunction
0.31
dementia
0.27
Abnormal central motor function
0.27

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Alpha-tocopherol transfer protein

Binds alpha-tocopherol, enhances its transfer between separate membranes, and stimulates its release from liver cells (PubMed:7887897). Binds both phosphatidylinositol 3,4-bisphosphate and phosphatidylinositol 4,5-bisphosphate; the resulting conformation change is important for the release of the bound alpha-tocopherol (By similarity)