Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: EC:3.6.1.25 (
triphosphatase
)
1,529
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Patients with Charcot-Marie-Tooth neuropathy and gene targeting in mice revealed an essential role for the
SH3TC2
gene in peripheral nerve myelination.
SH3TC2
expression is restricted to Schwann cells in the peripheral nervous system, and the gene product,
SH3TC2
, localizes to the perinuclear recycling compartment. Here, we show that
SH3TC2
interacts with the small guanosine
triphosphatase
Rab11, which is known to regulate the recycling of internalized membranes and receptors back to the cell surface. Results of protein binding studies and transferrin receptor trafficking are in line with a role of
SH3TC2
as a Rab11 effector molecule. Consistent with a function of Rab11 in Schwann cell myelination,
SH3TC2
mutations that cause neuropathy disrupt the
SH3TC2
/Rab11 interaction, and forced expression of dominant negative Rab11 strongly impairs myelin formation in vitro. Our data indicate that the
SH3TC2
/Rab11 interaction is relevant for peripheral nerve pathophysiology and place endosomal recycling on the list of cellular mechanisms involved in Schwann cell myelination.
...
PMID:SH3TC2, a protein mutant in Charcot-Marie-Tooth neuropathy, links peripheral nerve myelination to endosomal recycling. 2082 37
