Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 15/06/2006

Symbol	AVED
Location	8q13
HGNC id	893
Name	adult-onset spinocerebellar ataxia
Other name(s)	vitamin E familial isolated deficiency
Corresponding gene	TTPA
Other symbol(s)	VED
Main clinical features	selective vitamin E deficiency, Friedreich-like, with secundary retinitis pigmentosa
Genetic determination
Function/system disorder	neurology
Type	disease

Gene product

Name	alpha-tocopherol transfer protein (TTPA)