7b2g | pdb_00007b2g
From Proteopedia
Crystal structure of R120Q GDAP1 mutant
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Structural highlights
DiseaseGDAP1_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. FunctionGDAP1_HUMAN Regulates the mitochondrial network by promoting mitochondrial fission.[1] References
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This page was last modified 07:51, 7 February 2024.