3ktf: Difference between revisions

From Proteopedia
Jump to navigationJump to search
← Older editNewer edit →
OCA (talk | contribs)
Bots, Bureaucrats, journal, Administrators
3,331,615 edits
No edit summary
OCA (talk | contribs)
Bots, Bureaucrats, journal, Administrators
3,331,615 edits
No edit summary
Line 1: Line 1:
{{Seed}}
[[Image:3ktf.jpg|left|200px]]
<!--
The line below this paragraph, containing "STRUCTURE_3ktf", 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_3ktf|  PDB=3ktf  |  SCENE=  }}  
{{STRUCTURE_3ktf|  PDB=3ktf  |  SCENE=  }}  
===Structure of the N-terminal BRCT domain of human microcephalin (MCPH1).===
===Structure of the N-terminal BRCT domain of human microcephalin (MCPH1).===


==Disease==
[[http://www.uniprot.org/uniprot/MCPH1_HUMAN MCPH1_HUMAN]] Premature chromosome condensation with microcephaly and intellectual deficit;Autosomal recessive primary microcephaly. Defects in MCPH1 are the cause of microcephaly primary type 1 (MCPH1) [MIM:[http://omim.org/entry/251200 251200]]; also known as true microcephaly or microcephaly vera. Microcephaly is defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits. This entity is inherited as autosomal recessive trait.<ref>PMID:12046007</ref> <ref>PMID:15199523</ref> <ref>PMID:16211557</ref> 


==Disease==
==Function==
Known disease associated with this structure: Microcephaly, autosomal recessive 1 OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607117 607117]], Premature chromosome condensation with microcephaly and mental retardation OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607117 607117]]
[[http://www.uniprot.org/uniprot/MCPH1_HUMAN MCPH1_HUMAN]] Implicated in chromosome condensation and DNA damage induced cellular responses. May play a role in neurogenesis and regulation of the size of the cerebral cortex.<ref>PMID:12046007</ref> <ref>PMID:15199523</ref> <ref>PMID:15220350</ref> 


==About this Structure==
==About this Structure==
3KTF is a 3 chains structure of sequences 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=3KTF OCA].  
[[3ktf]] is a 3 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=3KTF OCA].  
 
==Reference==
<references group="xtra"/><references/>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Heroux, A.]]
[[Category: Heroux, A.]]
Line 24: Line 19:
[[Category: Thompson, J R.]]
[[Category: Thompson, J R.]]
[[Category: Brct domain]]
[[Category: Brct domain]]
[[Category: Cytoplasm]]
[[Category: Cell cycle]]
[[Category: Cytoskeleton]]
[[Category: Cytoskeleton]]
[[Category: Dwarfism]]
[[Category: Dwarfism]]
Line 31: Line 26:
[[Category: Microcephalin]]
[[Category: Microcephalin]]
[[Category: Phosphoprotein]]
[[Category: Phosphoprotein]]
[[Category: Polymorphism]]
[[Category: Primary microcephaly]]
[[Category: Primary microcephaly]]
''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Wed Dec 16 14:34:29 2009''
Retrieved from "https://proteopedia.org/3ktf"