Primary Identifier | IPR039352 | Type | Family |
Short Name | BEAN1 |
description | The function of BEAN1 (brain expressed, associated with Nedd4) is not clear. Mutations in the BEAN1 gene cause spinocerebellar ataxia type 31 (SCA31), an autosomal-dominant cerebellar ataxia showing a Purkinje cell (PC)-predominant neurodegeneration in humans []. |