3bqo: Difference between revisions
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{{STRUCTURE_3bqo| PDB=3bqo | SCENE= }} | {{STRUCTURE_3bqo| PDB=3bqo | SCENE= }} | ||
===Crystal Structure of TRF1 TRFH domain and TIN2 peptide complex=== | |||
{{ABSTRACT_PUBMED_18202258}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/TINF2_HUMAN TINF2_HUMAN]] Defects in TINF2 are a cause of dyskeratosis congenita autosomal dominant type 3 (DKCA3) [MIM:[http://omim.org/entry/613990 613990]]. A rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy.<ref>PMID:18252230</ref> Defects in TINF2 are a cause of retinopathy exudative with bone marrow failure (ERBMF) [MIM:[http://omim.org/entry/268130 268130]]; also known as Revesz syndrome. ERBMF is characterized by bilateral exudative retinopathy, bone marrow hypoplasia, nail dystrophy, fine hair, cerebellar hypoplasia, and growth retardation.<ref>PMID:18252230</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/TERF1_HUMAN TERF1_HUMAN]] Binds the telomeric double-stranded TTAGGG repeat and negatively regulates telomere length. Involved in the regulation of the mitotic spindle. Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded TTAGGG repeats added by telomerase and protects chromosome ends; without its protective activity, telomeres are no longer hidden from the DNA damage surveillance and chromosome ends are inappropriately processed by DNA repair pathways.<ref>PMID:16166375</ref> [[http://www.uniprot.org/uniprot/TINF2_HUMAN TINF2_HUMAN]] Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded TTAGGG repeats added by telomerase and protects chromosome ends; without its protective activity, telomeres are no longer hidden from the DNA damage surveillance and chromosome ends are inappropriately processed by DNA repair pathways. Plays a role in shelterin complex assembly. Isoform 1 may have additional role in tethering telomeres to the nuclear matrix.<ref>PMID:16166375</ref><ref>PMID:16880378</ref><ref>PMID:19229133</ref> | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:018202258</ref><references group="xtra"/> | <ref group="xtra">PMID:018202258</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Baciu, P.]] | [[Category: Baciu, P.]] | ||
