Myelin P0 protein-related
IPR000920
Definition
This entry represents a group of transmembrane proteins, including myelin protein P0, myelin protein zero-like protein 1/2/3, sodium channel subunit beta-2 and v-set and immunoglobulin domain-containing protein 1. Myelin protein P0 is required for normal myelination in the peripheral nervous system. It mediates adhesion between adjacent myelin wraps and ultimately drives myelin compaction. Mutations in the gene MPZ, encoding myelin protein zero (MPZ), cause inherited neuropathies collectively called Charcot-Marie-Tooth type 1B PMID:18337304. Sodium channel regulatory subunit beta-2 is a regulatory subunit of multiple voltage-gated sodium (Nav) channels directly mediating the depolarisation of excitable membranes [[cite:PMID:19808477], [cite:PMID:23559163], [cite:PMID:26894959]]. This entry also includes Junctional adhesion molecule-like (JAML) which is localised at the cell plasma membrane in the areas of cell-cell contacts and is involved in the transmigration of leukocytes within epithelial and endothelial tissues through adhesive interactions with epithelial and endothelial CXADR [[cite:PMID:12869515], [cite:PMID:18948633]].
8 human proteins with this domain
Each is a reviewed human protein in the Seroatlas serome and a potential autoantibody target; this domain groups them into one antibody-relevant category. Every entry links to its own record.
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