SH3 domain and tetratricopeptide repeats-containing protein 2 (SH3TC2)

SH3 domain and tetratricopeptide repeats-containing protein 2 (SH3TC2) is a protein expressed mainly in Schwann cells of the peripheral nervous system, where it plays a significant role in myelination and the maintenance of the node of Ranvier. The protein contains two N-terminal Src homology 3 (SH3) domains and multiple tetratricopeptide repeat (TPR) domains, suggesting a role as a scaffold or adapter protein in cellular trafficking processes. SH3TC2 localizes to the plasma membrane and the perinuclear endocytic recycling compartment, interacting with proteins such as Rab11, which is involved in membrane protein recycling. Mutations in the SH3TC2 gene are causally linked to Charcot-Marie-Tooth disease type 4C (CMT4C), an autosomal recessive demyelinating neuropathy characterized by hypomyelination, motor and sensory neuron dysfunction, and abnormal nodal architecture in peripheral nerves. There are no reported drugs targeting the protein, nor established mechanisms of drug action on SH3TC2, but genetic and pathological markers are important for diagnosis and research into demyelinating neuropathies

Other names

KIAA1985PP12494CMT4CMNMNSH3 domain and tetratricopeptide repeats 2SH3 domain and tetratricopeptide repeat-containing protein 2SH3TC2