TTPA alpha tocopherol transfer protein
Gene ID: 7274, updated on 2-Nov-2024Gene type: protein coding
Also known as: ATTP; AVED; TTP1; alphaTTP
- See all available tests in GTR for this gene
- Go to complete Gene record for TTPA
- Go to Variation Viewer for TTPA variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Familial isolated deficiency of vitamin E MedGen: C1848533OMIM: 277460GeneReviews: Hereditary Ataxia Overview, Ataxia with Vitamin E Deficiency | See labs |
Genomic context
- Location:
- 8q12.3
- Sequence:
- Chromosome: 8; NC_000008.11 (63058409..63086053, complement)
- Total number of exons:
- 7
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TTPA variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- TTPA database
- Variation ViewerRelated Variants
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