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F12

MIM.610619 5q33-qter

Saturday 15 December 2007

The coding sequence of F12 consists of multiple domains that are homologous to domains found in fibronectin (MIM.135600) and tissue-type plasminogen activator (tTPA) (MIM.173370).

These regions are found as separate exons in the gene. The 5-prime end of the gene does not contain the typical TATA and CAAT sequences found in other genes. This is consistent with the finding that transcription of the gene is initiated at multiple sites.

Pathology

- inactivating germline mutations of F12 functional impairment of factor XII and low factor XII activity (MIM.234000)

- inactivating germline mutations of F12 in increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type 3.