3qrd: Difference between revisions

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

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===Crystal structure of L68V mutant of human cystatin C===

===~~Crystal structure~~ of ~~L68V mutant~~ of ~~human cystatin~~ C~~===~~

==Disease==

[[http://www.uniprot.org/uniprot/CYTC_HUMAN CYTC_HUMAN]] Defects in CST3 are the cause of amyloidosis type 6 (AMYL6) [MIM:[http://omim.org/entry/105150 105150]]; also known as hereditary cerebral hemorrhage with amyloidosis (HCHWA), cerebral amyloid angiopathy (CAA) or cerebroarterial amyloidosis Icelandic type. AMYL6 is a hereditary generalized amyloidosis due to cystatin C amyloid deposition. Cystatin C amyloid accumulates in the walls of arteries, arterioles, and sometimes capillaries and veins of the brain, and in various organs including lymphoid tissue, spleen, salivary glands, and seminal vesicles. Amyloid deposition in the cerebral vessels results in cerebral amyloid angiopathy, cerebral hemorrhage and premature stroke. Cystatin C levels in the cerebrospinal fluid are abnormally low.<ref>PMID:2541223</ref><ref>PMID:1352269</ref> Genetic variations in CST3 are associated with age-related macular degeneration type 11 (ARMD11) [MIM:[http://omim.org/entry/611953 611953]]. ARMD is a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane.<ref>PMID:11815350</ref>

==Function==

[[http://www.uniprot.org/uniprot/CYTC_HUMAN CYTC_HUMAN]] As an inhibitor of cysteine proteinases, this protein is thought to serve an important physiological role as a local regulator of this enzyme activity.

==About this Structure==

[[3qrd]] 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=3QRD OCA].

==Reference==

[[Category: Homo sapiens]]

[[Category: Borek, D.]]

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-[[Image:3qrd.jpg|left|200px]]
-<!--
-The line below this paragraph, containing "STRUCTURE_3qrd", 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_3qrd|  PDB=3qrd  |  SCENE=  }}
+===Crystal structure of L68V mutant of human cystatin C===
-===Crystal structure of L68V mutant of human cystatin C===
+==Disease==
+[[http://www.uniprot.org/uniprot/CYTC_HUMAN CYTC_HUMAN]] Defects in CST3 are the cause of amyloidosis type 6 (AMYL6) [MIM:[http://omim.org/entry/105150 105150]]; also known as hereditary cerebral hemorrhage with amyloidosis (HCHWA), cerebral amyloid angiopathy (CAA) or cerebroarterial amyloidosis Icelandic type. AMYL6 is a hereditary generalized amyloidosis due to cystatin C amyloid deposition. Cystatin C amyloid accumulates in the walls of arteries, arterioles, and sometimes capillaries and veins of the brain, and in various organs including lymphoid tissue, spleen, salivary glands, and seminal vesicles. Amyloid deposition in the cerebral vessels results in cerebral amyloid angiopathy, cerebral hemorrhage and premature stroke. Cystatin C levels in the cerebrospinal fluid are abnormally low.<ref>PMID:2541223</ref><ref>PMID:1352269</ref>  Genetic variations in CST3 are associated with age-related macular degeneration type 11 (ARMD11) [MIM:[http://omim.org/entry/611953 611953]]. ARMD is a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane.<ref>PMID:11815350</ref>
+==Function==
+[[http://www.uniprot.org/uniprot/CYTC_HUMAN CYTC_HUMAN]] As an inhibitor of cysteine proteinases, this protein is thought to serve an important physiological role as a local regulator of this enzyme activity.
 ==About this Structure==
 [[3qrd]] 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=3QRD OCA].
+==Reference==
+<references group="xtra"/><references/>
 [[Category: Homo sapiens]]
 [[Category: Borek, D.]]