3ggc: Difference between revisions

Line 1:

~~[[Image:3ggc.png|left|200px]]~~

===Human hypoxanthine-guanine phosphoribosyltransferase in complex with 9-(2-phosphonoethoxyethyl)hypoxanthine===

===~~Human hypoxanthine~~-~~guanine phosphoribosyltransferase~~ in ~~complex with 9~~-(2-~~phosphonoethoxyethyl~~)~~hypoxanthine===~~

==Disease==

[[http://www.uniprot.org/uniprot/HPRT_HUMAN HPRT_HUMAN]] Defects in HPRT1 are the cause of Lesch-Nyhan syndrome (LNS) [MIM:[http://omim.org/entry/300322 300322]]. LNS is characterized by complete lack of enzymatic activity that results in hyperuricemia, choreoathetosis, mental retardation, and compulsive self-mutilation.<ref>PMID:6853716</ref><ref>PMID:3384338</ref><ref>PMID:3265398</ref><ref>PMID:2910902</ref><ref>PMID:2347587</ref><ref>PMID:2358296</ref><ref>PMID:2246854</ref><ref>PMID:2071157</ref><ref>PMID:7627191</ref><ref>PMID:9452051</ref> Defects in HPRT1 are the cause of gout HPRT-related (GOUT-HPRT) [MIM:[http://omim.org/entry/300323 300323]]; also known as HPRT-related gout or Kelley-Seegmiller syndrome. Gout is characterized by partial enzyme activity and hyperuricemia.<ref>PMID:6853490</ref><ref>PMID:6572373</ref><ref>PMID:6706936</ref><ref>PMID:3358423</ref><ref>PMID:3198771</ref><ref>PMID:2909537</ref>[:]

~~{{ABSTRACT_PUBMED_19527031}}~~

==Function==

[[http://www.uniprot.org/uniprot/HPRT_HUMAN HPRT_HUMAN]] Converts guanine to guanosine monophosphate, and hypoxanthine to inosine monophosphate. Transfers the 5-phosphoribosyl group from 5-phosphoribosylpyrophosphate onto the purine. Plays a central role in the generation of purine nucleotides through the purine salvage pathway.

==About this Structure==

Line 14:

Line 16:

==Reference==

[[Category: Homo sapiens]]

[[Category: Hypoxanthine phosphoribosyltransferase]]

Navigation menu

Page actions

Page actions

Personal tools

Navigation

Search

Tools

@@ Line 1: / Line 1: @@
-[[Image:3ggc.png|left|200px]]
 {{STRUCTURE_3ggc|  PDB=3ggc  |  SCENE=  }}
+===Human hypoxanthine-guanine phosphoribosyltransferase in complex with 9-(2-phosphonoethoxyethyl)hypoxanthine===
+{{ABSTRACT_PUBMED_19527031}}
-===Human hypoxanthine-guanine phosphoribosyltransferase in complex with 9-(2-phosphonoethoxyethyl)hypoxanthine===
+==Disease==
+[[http://www.uniprot.org/uniprot/HPRT_HUMAN HPRT_HUMAN]] Defects in HPRT1 are the cause of Lesch-Nyhan syndrome (LNS) [MIM:[http://omim.org/entry/300322 300322]]. LNS is characterized by complete lack of enzymatic activity that results in hyperuricemia, choreoathetosis, mental retardation, and compulsive self-mutilation.<ref>PMID:6853716</ref><ref>PMID:3384338</ref><ref>PMID:3265398</ref><ref>PMID:2910902</ref><ref>PMID:2347587</ref><ref>PMID:2358296</ref><ref>PMID:2246854</ref><ref>PMID:2071157</ref><ref>PMID:7627191</ref><ref>PMID:9452051</ref>  Defects in HPRT1 are the cause of gout HPRT-related (GOUT-HPRT) [MIM:[http://omim.org/entry/300323 300323]]; also known as HPRT-related gout or Kelley-Seegmiller syndrome. Gout is characterized by partial enzyme activity and hyperuricemia.<ref>PMID:6853490</ref><ref>PMID:6572373</ref><ref>PMID:6706936</ref><ref>PMID:3358423</ref><ref>PMID:3198771</ref><ref>PMID:2909537</ref>[:]
-{{ABSTRACT_PUBMED_19527031}}
+==Function==
+[[http://www.uniprot.org/uniprot/HPRT_HUMAN HPRT_HUMAN]] Converts guanine to guanosine monophosphate, and hypoxanthine to inosine monophosphate. Transfers the 5-phosphoribosyl group from 5-phosphoribosylpyrophosphate onto the purine. Plays a central role in the generation of purine nucleotides through the purine salvage pathway.
 ==About this Structure==
@@ Line 14: / Line 16: @@
 ==Reference==
-<ref group="xtra">PMID:019527031</ref><references group="xtra"/>
+<ref group="xtra">PMID:019527031</ref><references group="xtra"/><references/>
 [[Category: Homo sapiens]]
 [[Category: Hypoxanthine phosphoribosyltransferase]]