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FLASH GENE
Symbol TTPA contributors: - updated : 25-04-2005
HGNC name tocopherol (alpha) transfer protein (ataxia (Friedreich-like) with vitamin E deficiency)
HGNC id 12404
Corresponding disease
AVED adult-onset spinocerebellar ataxia
Location 8q13      Physical location : 63.972.047 - 63.998.612
Synonym symbol(s) TTP1, alphaTTP
DNA
TYPE functioning gene
STRUCTURE 25.00 kb     5 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status confirmed
RNA
TRANSCRIPTS type messenger
EXPRESSION
Type
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestinesmall intestine   
 liver    
Urinarykidney    
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
one CRAL-TRIO domain
HOMOLOGY
interspecies homolog to murine Ttpa
homolog to rattus Ttpa
Homologene
FAMILY
CATEGORY transport carrier
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm
basic FUNCTION liver protein responsible for the selective retention of alpha-tocopherol from dietary vitamin E
CELLULAR PROCESS
PHYSIOLOGICAL PROCESS
PATHWAY
metabolism
signaling sensory transduction/vision
a component
INTERACTION
DNA
RNA
small molecule
protein binding alpha-tocopherol
cell & other
REGULATION
ASSOCIATED DISORDERS
corresponding disease(s) AVED
related resource Retinal Information Network
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS