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 |
|---|---|---|---|
| RS2129763026 | Health Risk | Pathogenic | — |
| RS2129795580 | Health Risk | Pathogenic | — |
| RS2487147705 | Health Risk | Pathogenic | — |
| RS2487147948 | Health Risk | Pathogenic | — |
| RS2487147973 | Health Risk | Pathogenic | — |
| RS2487165321 | Health Risk | Pathogenic | — |
| RS2487165508 | Health Risk | Pathogenic | — |
| RS2487200887 | Health Risk | Pathogenic | — |
| RS2487201123 | Health Risk | Pathogenic | — |
| RS2487201425 | Health Risk | Pathogenic | — |
| RS397515377 | Health Risk | Pathogenic | ATAXIA, FRIEDREICH-LIKE, WITH ISOLATED VITAMIN E DEFICIENCY |
| RS397515378 | Health Risk | Pathogenic | ATAXIA, FRIEDREICH-LIKE, WITH ISOLATED VITAMIN E DEFICIENCY |
| RS397515379 | Health Risk | Pathogenic | ATAXIA, FRIEDREICH-LIKE, WITH ISOLATED VITAMIN E DEFICIENCY |
| RS397515524 | Health Risk | Pathogenic | Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E |
| RS752463700 | Health Risk | Pathogenic | — |
| RS766675875 | Health Risk | Pathogenic | Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E |
| RS778952721 | Health Risk | Pathogenic | — |
| RS886040963 | Health Risk | Pathogenic | Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E |
| RS1008240677 | Health Risk | Pathogenic/Likely pathogenic | Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E |
| RS121917849 | Health Risk | Pathogenic/Likely pathogenic | ATAXIA WITH ISOLATED VITAMIN E DEFICIENCY AND RETINITIS PIGMENTOSA, Familial isolated deficiency of vitamin E, ATAXIA WITH ISOLATED VITAMIN E DEFICIENCY AND RETINITIS PIGMENTOSA |
| RS1254934478 | Health Risk | Pathogenic/Likely pathogenic | Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E |
| RS1351036862 | Health Risk | Pathogenic/Likely pathogenic | Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E |
| RS143010236 | Health Risk | Pathogenic/Likely pathogenic | Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E |
| RS1805352418 | Health Risk | Pathogenic/Likely pathogenic | Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E |
| RS1805505628 | Health Risk | Pathogenic/Likely pathogenic | Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E |
| RS1805742175 | Health Risk | Pathogenic/Likely pathogenic | Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E |
| RS1805745954 | Health Risk | Pathogenic/Likely pathogenic | Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E |
| RS181109321 | Health Risk | Pathogenic/Likely pathogenic | Familial isolated deficiency of vitamin E, ATAXIA, FRIEDREICH-LIKE |
| RS2487143337 | Health Risk | Pathogenic/Likely pathogenic | Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E |
| RS2487201275 | Health Risk | Pathogenic/Likely pathogenic | Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E |
| RS35916840 | Health Risk | Pathogenic/Likely pathogenic | Familial isolated deficiency of vitamin E, Gastric cancer, Malignant tumor of esophagus |
| RS758349851 | Health Risk | Pathogenic/Likely pathogenic | Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E |
| RS760014795 | Health Risk | Pathogenic/Likely pathogenic | Familial isolated deficiency of vitamin E, Inborn genetic diseases, Familial isolated deficiency of vitamin E |
| RS786204758 | Health Risk | Pathogenic/Likely pathogenic | Familial isolated deficiency of vitamin E, TTPA-related disorder, Familial isolated deficiency of vitamin E |