TTPA, alpha tocopherol transfer protein, 7274

N. diseases: 147; N. variants: 31
Disease: Cerebellar Ataxia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.070 GeneticVariation phenotype BEFREE Since the neuromuscular deficits of ATTP-KO mice appear to be similar to those of patients with ATTP mutations, it is suggested that over-expression of sln and uchl1 may also contribute to AT-sensitive ataxia in humans. 19204867 2009
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.070 GeneticVariation phenotype BEFREE Vitamin E deficiency ataxia with (744 del A) mutation on alpha-TTP gene: genetic and clinical peculiarities in Moroccan patients. 15953402 2005
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.070 GeneticVariation phenotype BEFREE Mutations in another protein containing a CRAL-TRIO domain, alpha-tocopherol transfer protein (TTPA), cause a vitamin E-responsive ataxia. 14556008 2003
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.070 GeneticVariation phenotype BEFREE Ataxia with vitamin E (Vit E) defciency (AVED) is an autosomal recessive disorder caused by mutations of the alpha tocopherol transfer protein gene. 11554913 2001
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.070 AlteredExpression phenotype BEFREE By contrast, in the DRG, thought to be mainly responsible for ataxia, no expression of alpha-TTP was detected, and the tissue concentration of vitamin E increased to normal after supplementation. 10727494 2000
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.070 GeneticVariation phenotype BEFREE A 14-year-old male patient presented with ataxia and mental symptoms caused by a homozygous (552G-->A) alpha-tocopherol transfer protein mutation. 9931538 1999
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.070 GeneticVariation phenotype BEFREE alpha-Tocopherol transfer protein gene: exon skipping of all transcripts causes ataxia. 9270601 1997