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SERPINB6A gene on chromosome 6p25 that encodes a member of the serine protease inhibitor (serpin) family, which was first described as a placental thrombin inhibitor. SERPINB6 inhibits cathepsin G, kallikrein-8 and thrombin, and may play an important role in protecting the inner ear against leakage of lysosomal content during stress.
SERPINB6 mutations are associated with nonsyndromic progressive hearing loss.
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