TTPA Chromosome 8
Alpha tocopherol transfer protein
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What This Gene Does
This gene encodes a soluble protein that binds alpha-trocopherol, a form of vitamin E, with high selectivity and affinity. This protein plays an important role in regulating vitamin E levels in the body by transporting vitamin E between membrane vesicles and facilitating the secretion of vitamin E from hepatocytes to circulating lipoproteins. Mutations in this gene cause hereditary vitamin E deficiency (ataxia with vitamin E deficiency, AVED) and retinitis pigmentosa. [provided by RefSeq, Nov 2009]
Gene Info
Gene Group
CRAL-TRIO lipid binding domain containing
Locus Type
gene with protein product
Location
8q12.3
Ensembl
ENSG00000137561
Associated Conditions (11)
ATAXIA
FRIEDREICH-LIKE
WITH ISOLATED VITAMIN E DEFICIENCY
Familial isolated deficiency of vitamin E
TTPA-related disorder
Abnormal central motor function
Retinal dystrophy
ATAXIA WITH ISOLATED VITAMIN E DEFICIENCY AND RETINITIS PIGMENTOSA
Gastric cancer
Malignant tumor of esophagus
Inborn genetic diseases
Key Variants
RS121917850
Conflicting classifications of pathogenicity
ATAXIA, FRIEDREICH-LIKE, WITH ISOLATED VITAMIN E DEFICIENCY
Health Risk
RS1805748956
Conflicting classifications of pathogenicity
Health Risk
RS200547556
Conflicting classifications of pathogenicity
Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E
Health Risk
RS371592549
Conflicting classifications of pathogenicity
Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E
Health Risk
RS397515522
Conflicting classifications of pathogenicity
Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E
Health Risk
RS761911043
Conflicting classifications of pathogenicity
Health Risk
RS766200402
Conflicting classifications of pathogenicity
Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E
Health Risk
RS772020906
Conflicting classifications of pathogenicity
Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E
Health Risk
RS773911591
Conflicting classifications of pathogenicity
Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E
Health Risk
RS774283073
Conflicting classifications of pathogenicity
Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E
Health Risk
RS973874631
Conflicting classifications of pathogenicity
Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E
Health Risk
RS1057516423
Likely pathogenic
Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E
Health Risk
All Variants (84)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121917850 | Health Risk | Conflicting classifications of pathogenicity | ATAXIA, FRIEDREICH-LIKE, WITH ISOLATED VITAMIN E DEFICIENCY |
| RS1805748956 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200547556 | Health Risk | Conflicting classifications of pathogenicity | Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E |
| RS371592549 | Health Risk | Conflicting classifications of pathogenicity | Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E |
| RS397515522 | Health Risk | Conflicting classifications of pathogenicity | Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E |
| RS761911043 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS766200402 | Health Risk | Conflicting classifications of pathogenicity | Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E |
| RS772020906 | Health Risk | Conflicting classifications of pathogenicity | Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E |
| RS773911591 | Health Risk | Conflicting classifications of pathogenicity | Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E |
| RS774283073 | Health Risk | Conflicting classifications of pathogenicity | Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E |
| RS973874631 | Health Risk | Conflicting classifications of pathogenicity | Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E |
| RS1057516423 | Health Risk | Likely pathogenic | Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E |
| RS1057517448 | Health Risk | Likely pathogenic | Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E |
| RS1554605498 | Health Risk | Likely pathogenic | Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E |
| RS1554605631 | Health Risk | Likely pathogenic | Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E |
| RS1563363293 | Health Risk | Likely pathogenic | Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E |
| RS1563678770 | Health Risk | Likely pathogenic | — |
| RS1805742556 | Health Risk | Likely pathogenic | Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E |
| RS2129734219 | Health Risk | Likely pathogenic | Abnormal central motor function, Abnormal central motor function |
| RS2129745568 | Health Risk | Likely pathogenic | — |
| RS2129762477 | Health Risk | Likely pathogenic | — |
| RS2487147387 | Health Risk | Likely pathogenic | Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E |
| RS2487147481 | Health Risk | Likely pathogenic | Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E |
| RS2487147566 | Health Risk | Likely pathogenic | Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E |
| RS2487147613 | Health Risk | Likely pathogenic | Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E |
| RS2487147925 | Health Risk | Likely pathogenic | Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E |
| RS2487164970 | Health Risk | Likely pathogenic | Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E |
| RS2487165803 | Health Risk | Likely pathogenic | Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E |
| RS2487165831 | Health Risk | Likely pathogenic | Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E |
| RS2487165874 | Health Risk | Likely pathogenic | Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E |
| RS2487199918 | Health Risk | Likely pathogenic | — |
| RS2487199926 | Health Risk | Likely pathogenic | Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E |
| RS2487200395 | Health Risk | Likely pathogenic | Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E |
| RS2487201178 | Health Risk | Likely pathogenic | Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E |
| RS982650476 | Health Risk | Likely pathogenic | Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E |
| RS121917851 | Health Risk | Pathogenic | ATAXIA, FRIEDREICH-LIKE, WITH ISOLATED VITAMIN E DEFICIENCY |
| RS1289894249 | Health Risk | Pathogenic | — |
| RS1408863841 | Health Risk | Pathogenic | Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E |
| RS1554523526 | Health Risk | Pathogenic | — |
| RS1554524061 | Health Risk | Pathogenic | Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E |
| RS1554525125 | Health Risk | Pathogenic | Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E |
| RS1554525128 | Health Risk | Pathogenic | Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E |
| RS1563678790 | Health Risk | Pathogenic | — |
| RS1805303504 | Health Risk | Pathogenic | — |
| RS1805748326 | Health Risk | Pathogenic | — |
| RS2129734482 | Health Risk | Pathogenic | — |
| RS2129741848 | Health Risk | Pathogenic | Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E |
| RS2129746116 | Health Risk | Pathogenic | — |
| RS2129762689 | Health Risk | Pathogenic | — |
| RS2129762747 | Health Risk | Pathogenic | — |