Sandbox GGC9: Difference between revisions

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Early intervention of people with Omenn's syndrome is important, because if left untreated it will be fatal. [4] Treatment of Omenn's syndrome includes bone marrow or cord blood stem cell transplantation. [4]  
Early intervention of people with Omenn's syndrome is important, because if left untreated it will be fatal. [4] Treatment of Omenn's syndrome includes bone marrow or cord blood stem cell transplantation. [4]  
== '''Structural highlights''' ==
== '''Structural highlights''' ==
The subunit structure is defined as a homodimer.
The subunit structure is defined as a homodimer.


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Initial studies identified aspartic acid residues at positions 600 and 708 function to initiate catalysis.[7]<scene name='75/752271/Catalytic_residues/1'>Catalytic Residues</scene>
Initial studies identified aspartic acid residues at positions 600 and 708 function to initiate catalysis.[7]<scene name='75/752271/Catalytic_residues/1'>Catalytic Residues</scene>


In addition to the catalytic function of aspartic acid residues at 600 and 708, researchers have discovered a trio of residues that are necessary for the DNA cleavage during V(D)J recombination. This trio includes the two catalytic residues as well as a Glutamic acid residue at position 962.[8]<scene name='75/752271/Dde_motif/1'>Residues responsible for DNA cleavage</scene>
In addition to the catalytic function of aspartic acid residues at 600 and 708, researchers have discovered a trio of residues that are necessary for the DNA cleavage during V(D)J recombination. This trio includes the two catalytic residues as well as a Glutamic acid residue at position 962.[8]<scene name='75/752271/Dde_motif/1'>Residues responsible for DNA cleavage</scene>


Residues 265-383 on RAG 1 contain ubiquitin ligase activity. <scene name='75/752271/Ubiquitin_ligase_activity/1'>Ubiquitin activity</scene>
Residues 265-383 on RAG 1 contain ubiquitin ligase activity. <scene name='75/752271/Ubiquitin_ligase_activity/1'>Ubiquitin activity</scene>