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The protein encoded by SERPINB6 is a member of the serpin (serine proteinase inhibitor) superfamily, and ovalbumin(ov)-serpin subfamily.
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Mice lacking SERPINB6A show nonsyndromic, autosomal-recessive deafness. SERPINB6A is present in the inner ear and deafness is associated with age-related progressive degeneration of the organ of Corti.
Data suggest that compensation by other serpins reduces the impact of SPI3/serpinb6 deficiency in these animals and may explain the lack of a more obvious phenotype.
A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss.
In mast cells, SERPINB6 serves to regulate the activity of endogenous beta-tryptase (show TPSAB1 ELISA Kits) in the cytoplasm.
Protects the intracellular compartment of keratinocytes from ectopic kallikrein-8 (show KLK8 ELISA Kits).
the discovery overexpression of GPD1 (show GPD1 ELISA Kits) and RRBP1 (show RRBP1 ELISA Kits) proteins and lack of expression for HNRNPH1 (show HNRNPH1 ELISA Kits) and SERPINB6 proteins which are new candidate biomarkers of colon cancer.
The protein encoded by this gene is a member of the serpin (serine proteinase inhibitor) superfamily, and ovalbumin(ov)-serpin subfamily. It was originally discovered as a placental thrombin inhibitor. The mouse homolog was found to be expressed in the hair cells of the inner ear. Mutations in this gene are associated with nonsyndromic progressive hearing loss, suggesting that this serpin plays an important role in the inner ear in the protection against leakage of lysosomal content during stress, and that loss of this protection results in cell death and sensorineural hearing loss. Alternatively spliced transcript variants have been found for this gene.
serine (or cysteine) peptidase inhibitor, clade B, member 6a
, serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 6
, serpin B6
, placental thrombin inhibitor
, serine (or cysteine) proteinase inhibitor, clade B, member 6a
, serine protease inhibitor 3
, cytoplasmic antiproteinase
, protease inhibitor 6 (placental thrombin inhibitor)
, proteinase inhibitor 6
, serine proteinase inhibitor B-43