3hn3: Difference between revisions

Line 1:

~~[[Image:3hn3.png|left|200px]]~~

===Human beta-glucuronidase at 1.7 A resolution===

===~~Human beta~~-~~glucuronidase at 1~~.7 ~~A resolution===~~

==Disease==

[[http://www.uniprot.org/uniprot/BGLR_HUMAN BGLR_HUMAN]] Defects in GUSB are the cause of mucopolysaccharidosis type 7 (MPS7) [MIM:[http://omim.org/entry/253220 253220]]; also known as Sly syndrome. MPS7 is an autosomal recessive lysosomal storage disease characterized by inability to degrade glucuronic acid-containing glycosaminoglycans. The phenotype is highly variable, ranging from severe lethal hydrops fetalis to mild forms with survival into adulthood. Most patients with the intermediate phenotype show hepatomegaly, skeletal anomalies, coarse facies, and variable degrees of mental impairment.<ref>PMID:8111412</ref><ref>PMID:8111413</ref><ref>PMID:1702266</ref><ref>PMID:7680524</ref><ref>PMID:8089138</ref><ref>PMID:7573038</ref><ref>PMID:7633414</ref><ref>PMID:8644704</ref><ref>PMID:8707294</ref><ref>PMID:9099834</ref><ref>PMID:9490302</ref><ref>PMID:12859417</ref><ref>PMID:12522561</ref> Note=Mucopolysaccharidosis type 7 is associated with non-immune hydrops fetalis, a generalized edema of the fetus with fluid accumulation in the body cavities due to non-immune causes. Non-immune hydrops fetalis is not a diagnosis in itself but a symptom, a feature of many genetic disorders, and the end-stage of a wide variety of disorders.

==Function==

[[http://www.uniprot.org/uniprot/BGLR_HUMAN BGLR_HUMAN]] Plays an important role in the degradation of dermatan and keratan sulfates.

==About this Structure==

[[3hn3]] is a 4 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=3HN3 OCA].

==Reference==

[[Category: Beta-glucuronidase]]

[[Category: Homo sapiens]]

Navigation menu

Page actions

Page actions

Personal tools

Navigation

Search

Tools

@@ Line 1: / Line 1: @@
-[[Image:3hn3.png|left|200px]]
 {{STRUCTURE_3hn3|  PDB=3hn3  |  SCENE=  }}
+===Human beta-glucuronidase at 1.7 A resolution===
-===Human beta-glucuronidase at 1.7 A resolution===
+==Disease==
+[[http://www.uniprot.org/uniprot/BGLR_HUMAN BGLR_HUMAN]] Defects in GUSB are the cause of mucopolysaccharidosis type 7 (MPS7) [MIM:[http://omim.org/entry/253220 253220]]; also known as Sly syndrome. MPS7 is an autosomal recessive lysosomal storage disease characterized by inability to degrade glucuronic acid-containing glycosaminoglycans. The phenotype is highly variable, ranging from severe lethal hydrops fetalis to mild forms with survival into adulthood. Most patients with the intermediate phenotype show hepatomegaly, skeletal anomalies, coarse facies, and variable degrees of mental impairment.<ref>PMID:8111412</ref><ref>PMID:8111413</ref><ref>PMID:1702266</ref><ref>PMID:7680524</ref><ref>PMID:8089138</ref><ref>PMID:7573038</ref><ref>PMID:7633414</ref><ref>PMID:8644704</ref><ref>PMID:8707294</ref><ref>PMID:9099834</ref><ref>PMID:9490302</ref><ref>PMID:12859417</ref><ref>PMID:12522561</ref>  Note=Mucopolysaccharidosis type 7 is associated with non-immune hydrops fetalis, a generalized edema of the fetus with fluid accumulation in the body cavities due to non-immune causes. Non-immune hydrops fetalis is not a diagnosis in itself but a symptom, a feature of many genetic disorders, and the end-stage of a wide variety of disorders.
+==Function==
+[[http://www.uniprot.org/uniprot/BGLR_HUMAN BGLR_HUMAN]] Plays an important role in the degradation of dermatan and keratan sulfates.
 ==About this Structure==
 [[3hn3]] is a 4 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=3HN3 OCA].
+==Reference==
+<references group="xtra"/><references/>
 [[Category: Beta-glucuronidase]]
 [[Category: Homo sapiens]]