2aq0: Difference between revisions
From Proteopedia
Jump to navigationJump to search
m Protected "2aq0" [edit=sysop:move=sysop] |
No edit summary |
||
| Line 1: | Line 1: | ||
{{STRUCTURE_2aq0| PDB=2aq0 | SCENE= }} | {{STRUCTURE_2aq0| PDB=2aq0 | SCENE= }} | ||
===Solution structure of the human homodimeric dna repair protein XPF=== | |||
{{ABSTRACT_PUBMED_17912758}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/ERCC4_HUMAN ERCC4_HUMAN]] Defects in ERCC4 are the cause of xeroderma pigmentosum complementation group F (XP-F) [MIM:[http://omim.org/entry/278760 278760]]; also known as xeroderma pigmentosum VI (XP6). XP-F is an autosomal recessive disease characterized by hypersensitivity of the skin to sunlight followed by high incidence of skin cancer and frequent neurologic abnormalities.<ref>PMID:8797827</ref><ref>PMID:9580660</ref><ref>PMID:9579555</ref> Defects in ERCC4 are a cause of XFE progeroid syndrome (XFEPS) [MIM:[http://omim.org/entry/610965 610965]]. This syndrome is illustrated by one patient who presented with dwarfism, cachexia and microcephaly.<ref>PMID:17183314</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/ERCC4_HUMAN ERCC4_HUMAN]] Structure-specific DNA repair endonuclease responsible for the 5-prime incision during DNA repair. Involved in homologous recombination that assists in removing interstrand cross-link.<ref>PMID:19596235</ref> | |||
==About this Structure== | ==About this Structure== | ||
| Line 11: | Line 13: | ||
==Reference== | ==Reference== | ||
<ref group="xtra">PMID:017912758</ref><references group="xtra"/> | <ref group="xtra">PMID:017912758</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Boelens, R.]] | [[Category: Boelens, R.]] | ||
