SH3TC2 Polyclonal Antibody, 50ul Bio-Reaction Tube Mutations in this gene result

Mutations in this gene result in autosomal dominant hereditary thrombophilia

which is required for ubiquitin-mediated degradation of cell cycle G1 regulators

disease:Defects in OSMR are the cause of amyloidosis type 9 (AMYL9)

generally promoting their degradation by the proteasome

SH3TC2 Polyclonal Antibody, 50ul Bio-Reaction Tube Mutations in this gene resultSH3TC2 (SH3 domain and tetratricopeptide repeats 2) encodes a protein with two N terminal Src homology 3 (SH3) domains and 10 tetratricopeptide repeat (TPR) motifs, and is a member of a small gene family. The gene product has been proposed to be an adapter or docking molecule. Mutations in this gene result in autosomal recessive Charcot Marie Tooth disease type 4C, a childhood onset neurodegenerative disease characterized by demyelination of motor and