Aliases for SERPINB6 Gene
External Ids for SERPINB6 Gene
Previous HGNC Symbols for SERPINB6 Gene
Previous GeneCards Identifiers for SERPINB6 Gene
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]
GeneCards Summary for SERPINB6 Gene
SERPINB6 (Serpin Family B Member 6) is a Protein Coding gene. Diseases associated with SERPINB6 include Deafness, Autosomal Recessive 91 and Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb. Among its related pathways are Innate Immune System and Ectoderm Differentiation. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase inhibitor activity and protease binding. An important paralog of this gene is SERPINB8.
UniProtKB/Swiss-Prot Summary for SERPINB6 Gene
May be involved in the regulation of serine proteinases present in the brain or extravasated from the blood (By similarity). Inhibitor of cathepsin G, kallikrein-8 and thrombin. May play an important role in the inner ear in the protection against leakage of lysosomal content during stress and loss of this protection results in cell death and sensorineural hearing loss.