SPRE2 Rabbit Polyclonal Antibody, 20ul Enzymes Mutations in this gene cause

Mutations in this gene cause myopathy and distal arthrogryposis type 2B

The encoded protein does not contain a mitochondrial targeting sequence but experimental studies confirm that it is imported into mitochondria

This protein contains a WNT inhibitory factor (WIF) domain and five epidermal growth factor (EGF)-like domains

|PTM:Monomethylated| dimethylated or trimethylated at Lys-21

and it is involved in photoreceptor cell maintenance

SPRE2 Rabbit Polyclonal Antibody, 20ul Enzymes Mutations in this gene causeSPRED2 is a member of the Sprouty (see SPRY1; MIM 602465) SPRED family of proteins that regulate growth factor induced activation of the MAP kinase cascade (see MAPK1; MIM 176948) (Nonami et al. 2004