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DNA-repair - medvetande.dk

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Williams syndrom<br />

Non-homologous end-joining<br />

Deletion av<br />

kromosom 7<br />

(elastin, LIM kinase)<br />

Homologous end-joining<br />

Breast cancer susceptibility gene 2<br />

(BRCA2)<br />

BRC2_Human<br />

Storlek: 3418 aminosyror; 384219 Da<br />

Funktion: deltar i en pathway associerad med aktivering av<br />

double-strand break <strong>repair</strong> och/eller homolog rekombinering<br />

Subenhet: Interagerar med RAD51.<br />

Vävnadsspecificitet: högsta nivåer av uttryck hos bröst och<br />

tymus, något lägre nivåer i lungan, ovarier och mjälte<br />

Likheter: innehåller 8 BRCA2 repeats<br />

6

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