2h07: Difference between revisions

Line 1:

~~[[Image:2h07.png|left|200px]]~~

===crystal structure of human phosphoribosyl pyrophosphate synthetase 1 mutant S132A===

===~~crystal structure~~ of ~~human phosphoribosyl pyrophosphate~~ synthetase 1 ~~mutant S132A===~~

==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>

~~{{ABSTRACT_PUBMED_16939420}}~~

==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==

Line 11:

Line 13:

==Reference==

[[Category: Homo sapiens]]

[[Category: Ribose-phosphate diphosphokinase]]

Navigation menu

Page actions

Page actions

Personal tools

Navigation

Search

Tools

@@ Line 1: / Line 1: @@
-[[Image:2h07.png|left|200px]]
 {{STRUCTURE_2h07|  PDB=2h07  |  SCENE=  }}
+===crystal structure of human phosphoribosyl pyrophosphate synthetase 1 mutant S132A===
+{{ABSTRACT_PUBMED_16939420}}
-===crystal structure of human phosphoribosyl pyrophosphate synthetase 1 mutant S132A===
+==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>
-{{ABSTRACT_PUBMED_16939420}}
+==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==
@@ Line 11: / Line 13: @@
 ==Reference==
-<ref group="xtra">PMID:016939420</ref><references group="xtra"/>
+<ref group="xtra">PMID:016939420</ref><references group="xtra"/><references/>
 [[Category: Homo sapiens]]
 [[Category: Ribose-phosphate diphosphokinase]]