3e9l: Difference between revisions
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{{STRUCTURE_3e9l| PDB=3e9l | SCENE= }} | {{STRUCTURE_3e9l| PDB=3e9l | SCENE= }} | ||
===Crystal Structure of Human Prp8, Residues 1755-2016=== | |||
{{ABSTRACT_PUBMED_18843295}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/PRP8_HUMAN PRP8_HUMAN]] Defects in PRPF8 are the cause of retinitis pigmentosa type 13 (RP13) [MIM:[http://omim.org/entry/600059 600059]]. RP leads to degeneration of retinal photoreceptor cells. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP13 inheritance is autosomal dominant.<ref>PMID:17317632</ref><ref>PMID:11468273</ref>[:]<ref>PMID:11910553</ref><ref>PMID:12714658</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/PRP8_HUMAN PRP8_HUMAN]] Central component of the spliceosome, which may play a role in aligning the pre-mRNA 5'- and 3'-exons for ligation. Interacts with U5 snRNA, and with pre-mRNA 5'-splice sites in B spliceosomes and 3'-splice sites in C spliceosomes. | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:018843295</ref><references group="xtra"/> | <ref group="xtra">PMID:018843295</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Pena, V.]] | [[Category: Pena, V.]] | ||
