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Serpin peptidase inhibitor, clade B (ovalbumin), member 6 (HGNC Symbol)
Entrez gene summary
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. [provided by RefSeq, Sep 2010]
P35237 [Direct mapping] Serpin B6 A0A024QZX3 [Target identity:100%; Query identity:100%] Serpin peptidase inhibitor, clade B (Ovalbumin), member 6, isoform CRA_a
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MEMSAT3 predicted membrane proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Plasma proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)