5y4m | pdb_00005y4m

Discoidin domain of human CASPR2

spinqualitylabelsall models 5y4m, resolution 1.31Å Show:Asymmetric Unit Biological Assembly Drag the structure with the mouse to rotate   Export Animated Image   Print3D Structural highlights 5y4m is a 1 chain structure. Full crystallographic information is available from OCA. For a guided tour on the structure components use FirstGlance. Ligands: EDO Resources: FirstGlance, OCA, PDBe, RCSB, PDBsum, ProSAT Disease [CNTP2_HUMAN] Pitt-Hopkins-like syndrome;Autism;Cortical dysplasia - focal epilepsy syndrome. Disease susceptibility is associated with variations affecting the gene represented in this entry. A chromosomal aberration involving CNTNAP2 is found in a patient with autism spectrum disorder. Paracentric inversion 46,XY,inv(7)(q11.22;q35). The inversion breakpoints disrupt the genes AUTS2 and CNTNAP2. The disease is caused by mutations affecting the gene represented in this entry. Function [CNTP2_HUMAN] Required, with CNTNAP1, for radial and longitudinal organization of myelinated axons. Plays a role in the formation of functional distinct domains critical for saltatory conduction of nerve impulses in myelinated nerve fibers. Demarcates the juxtaparanodal region of the axo-glial junction.[UniProtKB:Q9CPW0]

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