SH3 Domain And Tetratricopeptide Repeats Protein 2 (SH3TC2)

SH3TC2 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 sensory neurons.The longest ORF predicted a 955-amino acid protein. RT-PCR ELISA detected expression in adult heart, testis, spinal cord, and brain as well as in fetal brain and liver. Expression was found in all specific regions of the brain examined. Little or no expression was detected in adult lung, liver, skeletal muscle, kidney, pancreas, spleen, or ovary.