2a1i: Difference between revisions
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{{STRUCTURE_2a1i| PDB=2a1i | SCENE= }} | {{STRUCTURE_2a1i| PDB=2a1i | SCENE= }} | ||
===Crystal Structure of the Central Domain of Human ERCC1=== | |||
{{ABSTRACT_PUBMED_16076955}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/ERCC1_HUMAN ERCC1_HUMAN]] Defects in ERCC1 are the cause of cerebro-oculo-facio-skeletal syndrome type 4 (COFS4) [MIM:[http://omim.org/entry/610758 610758]]. COFS is a degenerative autosomal recessive disorder of prenatal onset affecting the brain, eye and spinal cord. After birth, it leads to brain atrophy, hypoplasia of the corpus callosum, hypotonia, cataracts, microcornea, optic atrophy, progressive joint contractures and growth failure. Facial dysmorphism is a constant feature. Abnormalities of the skull, eyes, limbs, heart and kidney also occur.<ref>PMID:17273966</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/ERCC1_HUMAN ERCC1_HUMAN]] Structure-specific DNA repair endonuclease responsible for the 5'-incision during DNA repair. | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:016076955</ref><references group="xtra"/> | <ref group="xtra">PMID:016076955</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Ellenberger, T.]] | [[Category: Ellenberger, T.]] | ||
