PMP22 (peripheral myelin protein-22) is an integral membrane glycoprotein of internodal myelin and comprises an estimated 2-5 % of total myelin protein contents of peripheral nervous system. Its functional importance is emphasized by the fact that PMP22 gene mutations are the most common causes for inherited peripheral nerve disorders, also known as CMT (Charcot-Marie-Tooth diseases). Mutations of PMP22 are responsible for more than half of all the patients with inherited peripheral neuropathies, including CMT1A/CMT- type-1A with trisomy of PMP22, hereditary neuropathy with liability to pressure palsies (HNPP) with heterozygous deletion of PMP22, and CMT1E with point mutations of PMP22. These PMP22 associated disorders disrupt the organization of myelin, and subsequently axonal integrity which is untimately responsible for disabilities in patients. While overexpression and point-mutations of the PMP22 gene produces gain-of-function phenotypes, PMP22 deletion results in a loss-of-function phenotype that reveals the normal physiological functions of the PMP22 protein.
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FAQs for PMP22 (2)
In the immunohistochemistry paraffin section protocol....the PBS buffer....should it be at certain pH?
For IHC application, different labs cites the pH of PBS buffer in the range of 7.1 - 7.6 but most commonly used pH is pH 7.4 (this is what we use in our lab). You may use this PBS (pH 7.4) for making permeablization buffer, antibody diluent buffers and for making wash buffer. For more on the protocol that we use in our lab and for IHC-P troubleshooting suggestions, you may visit: IHC-P Protocol and IHC-P Troubleshooting.
I was wondering what does Format 7C mean as far as anitbodies go?
7C is a fluorophore - it is useful for FLOW. The details of the fluor are (A=425, E=500)