2yrc

From Proteopedia

(Difference between revisions)
Jump to: navigation, search
m (Protected "2yrc" [edit=sysop:move=sysop])
Line 1: Line 1:
-
[[Image:2yrc.png|left|200px]]
 
- 
{{STRUCTURE_2yrc| PDB=2yrc | SCENE= }}
{{STRUCTURE_2yrc| PDB=2yrc | SCENE= }}
- 
===Solution structure of the zf-Sec23_Sec24 from human Sec23A===
===Solution structure of the zf-Sec23_Sec24 from human Sec23A===
 +
==Disease==
 +
[[http://www.uniprot.org/uniprot/SC23A_HUMAN SC23A_HUMAN]] Defects in SEC23A are the cause of craniolenticulosutural dysplasia (CLSD) [MIM:[http://omim.org/entry/607812 607812]]; also known as cranio-lenticulo-sutural dysplasia. CLSD is an autosomal recessive syndrome characterized by late-closing fontanels, sutural cataracts, facial dysmorphisms and skeletal defects.<ref>PMID:16980979</ref>
 +
 +
==Function==
 +
[[http://www.uniprot.org/uniprot/SC23A_HUMAN SC23A_HUMAN]] Component of the COPII coat, that covers ER-derived vesicles involved in transport from the endoplasmic reticulum to the Golgi apparatus. COPII acts in the cytoplasm to promote the transport of secretory, plasma membrane, and vacuolar proteins from the endoplasmic reticulum to the Golgi complex.
==About this Structure==
==About this Structure==
[[2yrc]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2YRC OCA].
[[2yrc]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2YRC OCA].
 +
 +
==Reference==
 +
<references group="xtra"/><references/>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Hayashi, F.]]
[[Category: Hayashi, F.]]

Revision as of 19:05, 24 March 2013

Template:STRUCTURE 2yrc

Contents

Solution structure of the zf-Sec23_Sec24 from human Sec23A

Disease

[SC23A_HUMAN] Defects in SEC23A are the cause of craniolenticulosutural dysplasia (CLSD) [MIM:607812]; also known as cranio-lenticulo-sutural dysplasia. CLSD is an autosomal recessive syndrome characterized by late-closing fontanels, sutural cataracts, facial dysmorphisms and skeletal defects.[1]

Function

[SC23A_HUMAN] Component of the COPII coat, that covers ER-derived vesicles involved in transport from the endoplasmic reticulum to the Golgi apparatus. COPII acts in the cytoplasm to promote the transport of secretory, plasma membrane, and vacuolar proteins from the endoplasmic reticulum to the Golgi complex.

About this Structure

2yrc is a 1 chain structure with sequence from Homo sapiens. Full experimental information is available from OCA.

Reference

  1. ↑ Boyadjiev SA, Fromme JC, Ben J, Chong SS, Nauta C, Hur DJ, Zhang G, Hamamoto S, Schekman R, Ravazzola M, Orci L, Eyaid W. Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking. Nat Genet. 2006 Oct;38(10):1192-7. Epub 2006 Sep 17. PMID:16980979 doi:10.1038/ng1876

Proteopedia Page Contributors and Editors (what is this?)

OCA

Retrieved from "http://52.214.119.220/wiki/index.php/2yrc"
Personal tools