Synthetic peptide corresponding to a region within internal amino acids 432-481 (EEFRTMWVIG LGLKKPDNSE ILSIDLTYDI QSFTDTVYRQ AVNSKMFEMG) of Human PAPOLB (NP_064529; TrEMBL ID: A4D1Z6).
The function of this protein remains unknown. This gene is a member of the myotubularin family and encodes a putative tyrosine phosphatase. Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4B, an autosomal recessive demyelinating neuropathy. Multiple alternatively spliced transcript variants have been found for this gene, but the protein products of some of these variants are likely not viable, as they are nonsense-mediated mRNA decay (NMD) candidates.
Pathway
mRNA surveillance pathway;
Citations
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