3s5j: Difference between revisions

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~~[[Image:3s5j.jpg|left|200px]]~~

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===2.0A Crystal structure of human phosphoribosyl pyrophosphate synthetase 1===

===2.~~0A Crystal structure~~ of ~~human phosphoribosyl pyrophosphate~~ synthetase 1~~===~~

==Disease==

[[http://www.uniprot.org/uniprot/PRPS1_HUMAN PRPS1_HUMAN]] Defects in PRPS1 are the cause of phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:[http://omim.org/entry/300661 300661]]; also known as PRPS-related gout. It is a familial disorder characterized by excessive purine production, gout and uric acid urolithiasis. Defects in PRPS1 are the cause of Charcot-Marie-Tooth disease X-linked recessive type 5 (CMTX5) [MIM:[http://omim.org/entry/311070 311070]]; also known as optic atrophy-polyneuropathy-deafness or Rosenberg-Chutorian syndrome. CMTX5 is a form of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies characterized by severely reduced motor nerve conduction velocities (NCVs) (less than 38m/s) and segmental demyelination and remyelination, and primary peripheral axonal neuropathies characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy.<ref>PMID:17701900</ref> Defects in PRPS1 are the cause of ARTS syndrome (ARTS) [MIM:[http://omim.org/entry/301835 301835]]; also known as fatal ataxia X-linked with deafness and loss of vision. ARTS is a disorder characterized by mental retardation, early-onset hypotonia, ataxia, delayed motor development, hearing impairment, and optic atrophy. Susceptibility to infections, especially of the upper respiratory tract, can result in early death.<ref>PMID:17701896</ref> Defects in PRPS1 are the cause of deafness X-linked type 1 (DFNX1) [MIM:[http://omim.org/entry/304500 304500]]; also known as congenital sensorineural deafness X-linked 2 (DFN2). It is a form of deafness characterized by progressive, severe-to-profound sensorineural hearing loss in males. Females manifest mild to moderate hearing loss.<ref>PMID:20021999</ref>

==Function==

[[http://www.uniprot.org/uniprot/PRPS1_HUMAN PRPS1_HUMAN]] Catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis.

==About this Structure==

[[3s5j]] is a 2 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3S5J OCA].

==Reference==

[[Category: Homo sapiens]]

[[Category: Ribose-phosphate diphosphokinase]]

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-[[Image:3s5j.jpg|left|200px]]
-<!--
-The line below this paragraph, containing "STRUCTURE_3s5j", creates the "Structure Box" on the page.
-You may change the PDB parameter (which sets the PDB file loaded into the applet)
-or the SCENE parameter (which sets the initial scene displayed when the page is loaded),
-or leave the SCENE parameter empty for the default display.
--->
 {{STRUCTURE_3s5j|  PDB=3s5j  |  SCENE=  }}
+===2.0A Crystal structure of human phosphoribosyl pyrophosphate synthetase 1===
-===2.0A Crystal structure of human phosphoribosyl pyrophosphate synthetase 1===
+==Disease==
+[[http://www.uniprot.org/uniprot/PRPS1_HUMAN PRPS1_HUMAN]] Defects in PRPS1 are the cause of phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:[http://omim.org/entry/300661 300661]]; also known as PRPS-related gout. It is a familial disorder characterized by excessive purine production, gout and uric acid urolithiasis.  Defects in PRPS1 are the cause of Charcot-Marie-Tooth disease X-linked recessive type 5 (CMTX5) [MIM:[http://omim.org/entry/311070 311070]]; also known as optic atrophy-polyneuropathy-deafness or Rosenberg-Chutorian syndrome. CMTX5 is a form of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies characterized by severely reduced motor nerve conduction velocities (NCVs) (less than 38m/s) and segmental demyelination and remyelination, and primary peripheral axonal neuropathies characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy.<ref>PMID:17701900</ref>  Defects in PRPS1 are the cause of ARTS syndrome (ARTS) [MIM:[http://omim.org/entry/301835 301835]]; also known as fatal ataxia X-linked with deafness and loss of vision. ARTS is a disorder characterized by mental retardation, early-onset hypotonia, ataxia, delayed motor development, hearing impairment, and optic atrophy. Susceptibility to infections, especially of the upper respiratory tract, can result in early death.<ref>PMID:17701896</ref>  Defects in PRPS1 are the cause of deafness X-linked type 1 (DFNX1) [MIM:[http://omim.org/entry/304500 304500]]; also known as congenital sensorineural deafness X-linked 2 (DFN2). It is a form of deafness characterized by progressive, severe-to-profound sensorineural hearing loss in males. Females manifest mild to moderate hearing loss.<ref>PMID:20021999</ref>
+==Function==
+[[http://www.uniprot.org/uniprot/PRPS1_HUMAN PRPS1_HUMAN]] Catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis.
 ==About this Structure==
 [[3s5j]] is a 2 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3S5J OCA].
+==Reference==
+<references group="xtra"/><references/>
 [[Category: Homo sapiens]]
 [[Category: Ribose-phosphate diphosphokinase]]