2fhi: Difference between revisions
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{{STRUCTURE_2fhi| PDB=2fhi | SCENE= }} | {{STRUCTURE_2fhi| PDB=2fhi | SCENE= }} | ||
===SUBSTRATE ANALOG (IB2) COMPLEX WITH THE HIS 96 ASN SUBSTITUTION OF THE FRAGILE HISTIDINE TRIAD PROTEIN, FHIT=== | |||
{{ABSTRACT_PUBMED_9576908}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/FHIT_HUMAN FHIT_HUMAN]] Note=A chromosomal aberration involving FHIT has been found in a lymphoblastoid cell line established from a family with renal cell carcinoma and thyroid carcinoma. Translocation t(3;8)(p14.2;q24.1) with RNF139. Although the 3p14.2 breakpoint has been shown to interrupt FHIT in its 5-prime non-coding region, it is unlikely that FHIT is causally related to renal or other malignancies.<ref>PMID:15007172</ref> Note=Associated with digestive tract cancers. Numerous tumor types are found to have aberrant forms of FHIT protein due to deletions in a coding region of chromosome 3p14.2 including the fragile site locus FRA3B.<ref>PMID:15007172</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/FHIT_HUMAN FHIT_HUMAN]] Cleaves A-5'-PPP-5'A to yield AMP and ADP. Possible tumor suppressor for specific tissues.<ref>PMID:8794732</ref> | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:009576908</ref><references group="xtra"/> | <ref group="xtra">PMID:009576908</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Barnes, L D.]] | [[Category: Barnes, L D.]] | ||
