4rh7 | pdb_00004rh7
From Proteopedia
Crystal structure of human cytoplasmic dynein 2 motor domain in complex with ADP.Vi
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Structural highlights
DiseaseDYHC2_HUMAN Short rib-polydactyly syndrome, Majewski type;Short rib-polydactyly syndrome, Saldino-Noonan type;Jeune syndrome;Short rib-polydactyly syndrome, Verma-Naumoff type. The disease is caused by variants affecting the gene represented in this entry. In some cases DYNC2H1 mutations result in disease phenotype in the presence of mutations in NEK1 indicating digenic inheritance (digenic short rib-polydactyly syndrome 3/6 with polydactyly) (PubMed:21211617).[1] FunctionDYHC2_HUMAN May function as a motor for intraflagellar retrograde transport. Functions in cilia biogenesis. May play a role in transport between endoplasmic reticulum and Golgi or organization of the Golgi in cells (By similarity). See AlsoReferences
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This page was last modified 12:52, 1 March 2024.