v5.1.0.3
Glycine data from LIS
Type | Domain |
Description | This SM domain is found in Ataxin-2 [ , ]. This domain has been shown to interact with RNA helicase DDX6 [].Ataxin-2 has many functions, such as endocytic receptor cycling [ ], translational regulation, embryonic development [], energy metabolism and weight regulation []. Mutations of the Ataxin-2 gene cause spinocerebellar ataxia 2 (SCA2), a neurodegenerative disorder leading to predominant loss of Purkinje cells in the cerebellum and impairment of motor coordination []. In SCA2, expansion of a CAG repeat in exon 1 of the Ataxin-2 (ATXN2) gene causes expansion of a polyQ domain in the ATXN2 protein []. ATXN2 has been shown to interact with many proteins. It interacts with multiple RNA-binding proteins (RBPs), staufen, IP3R, RGS8 mRNA, endophilins and CIN85 []. |
Short Name | SM_dom_ATX |