7q6j | pdb_00007q6j

Crystal structure of the human GDAP1 CMT2 mutant-H123R

spinqualitylabelsall models 7q6j, resolution 2.20Å Show:Asymmetric Unit Biological Assembly Drag the structure with the mouse to rotate   Export Animated Image   Print3D Structural highlights 7q6j is a 2 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA. For a guided tour on the structure components use FirstGlance. Method: X-ray diffraction, Resolution 2.2Å Ligands: PEG Resources: FirstGlance, OCA, PDBe, RCSB, PDBsum, ProSAT Disease GDAP1_HUMAN Charcot-Marie-Tooth disease type 2H;Autosomal recessive intermediate Charcot-Marie-Tooth disease type A;Autosomal dominant Charcot-Marie-Tooth disease type 2K;Autosomal recessive Charcot-Marie-Tooth disease with hoarseness;Charcot-Marie-Tooth disease type 4A. The disease is caused by variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry. Function GDAP1_HUMAN Regulates the mitochondrial network by promoting mitochondrial fission.

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