2xsn | pdb_00002xsn
From Proteopedia
Crystal Structure of Human Tyrosine Hydroxylase Catalytic Domain
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Structural highlights
Disease[TY3H_HUMAN] Autosomal recessive dopa-responsive dystonia. The disease is caused by mutations affecting the gene represented in this entry. May play a role in the pathogenesis of Parkinson disease (PD). A genome-wide copy number variation analysis has identified a 34 kilobase deletion over the TH gene in a PD patient but not in any controls.[1] Function[TY3H_HUMAN] Plays an important role in the physiology of adrenergic neurons. See AlsoReferences
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This page was last modified 14:53, 17 November 2021.