SERPINF1

SERPINF1

A gene on chromosome 17p13.3 that encodes a member of the serine protease inhibitor (serpin) family. SERPINF1 does not undergo the S (stressed) to R (relaxed) conformational transition characteristic of active serpins; it has no serine protease inhibitory activity, but it inhibits angiogenesis and is a neurotrophic factor involved in neuronal differentiation in retinoblastoma cells.
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Although OI-3 is rare, studies in affected persons from different parts of the world have revealed causative mutations in several genes: CRTAP, P3H1, FKBP10, PPIB, SERPINH1, SERPINF1, BMP1, SP7, WNT1, TMEM38B, PLOD2 and CREB3L1.
7) Other genes, such as ASTN2 and SERPINF1, have been associated with increased risk of lung adenocarcinoma in never-smokers.
Uromodulin, SERPINF1 (serpin peptidase inhibitor, clade F, [alpha]-2 antiplasmin, pigment epithelium derived factor, member 1), and CD44 were verified in an independent cohort and shown to differentiate patients with AR from other groups.