SH3TC2 Polyclonal Antibody, 50ul Bio-Reaction Tube Defects in this gene are

Defects in this gene are associated with idiopathic growth retardation and in the short stature phenotype of Turner syndrome patients

this protein stabilizes existing proteins against aggregation and mediates the folding of newly translated proteins in the cytosol and in organelles

This gene encodes a DNA-binding protein which has high specificity for scaffold or matrix attachment region DNA elements (S/MAR DNA)

generally promoting their degradation by the proteasome

SH3TC2 Polyclonal Antibody, 50ul Bio-Reaction Tube Defects in this gene areSH3TC2 (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