Human SH3 domain and tetratricopeptide repeats 2 ELISA Kit | SH3TC2 elisa kit
Human SH3 domain and tetratricopeptide repeats-containing protein 2, SH3TC2 ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
This gene 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. [provided by RefSeq, Jul 2008]
Uniprot Description
SH3TC2: Defects in SH3TC2 are the cause of Charcot-Marie-Tooth disease type 4C (CMT4C). CMT4C is a recessive form of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathy and primary peripheral axonal neuropathy. Demyelinating CMT neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention, autosomal recessive forms of demyelinating Charcot- Marie-Tooth disease are designated CMT4. CMT4C is characterized by onset in childhood, early-onset scoliosis and a distinct Schwann cell pathology. Defects in SH3TC2 are the cause of mononeuropathy of the median nerve mild (MNMN). A disease characterized by median nerve mononeuropathy at the wrist. The clinical presentation ranges from a mild phenotype, consistent with carpal tunnel syndrome, to a severe median nerve mononeuropathy at the wrist associated with evidence of a more widespread axonal polyneuropathy. The latter phenotype is similar to that of patients with hereditary neuropathy with liability to pressure palsies. 4 isoforms of the human protein are produced by alternative splicing.
Chromosomal Location of Human Ortholog: 5q32
Cellular Component: recycling endosome; plasma membrane; cytoplasmic vesicle
Biological Process: regulation of intracellular protein transport; myelin maintenance in the peripheral nervous system
Disease: Charcot-marie-tooth Disease, Type 4c
Research Articles on SH3TC2
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Product Notes
The Human SH3TC2 sh3tc2 (Catalog #AAA9343166) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9343166 ELISA Kit recognizes Human SH3TC2. It is sometimes possible for the material contained within the vial of "SH3 domain and tetratricopeptide repeats 2, ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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