SERPINB6 Human Recombinant Protein

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]

SERPINB6: May be involved in the regulation of serine proteinases present in the brain or extravasated from the blood. 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. Defects in SERPINB6 are the cause of deafness autosomal recessive type 91 (DFNB91). It is a form of non- syndromic deafness characterized by progressive and age-dependent sensorineural hearing loss. Vestibular function is normal. Belongs to the serpin family. Ov-serpin subfamily.

Chromosomal Location of Human Ortholog: 6p25

Cellular Component: cytoplasm; cytosol; extracellular space; nucleus; protein complex

Molecular Function: protease binding; serine-type endopeptidase inhibitor activity

Biological Process: sensory perception of sound

Disease: Deafness, Autosomal Recessive 91