SERPINB6

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.

serpin family B member 6

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.

Biological Process cellular response to osmotic stressManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process negative regulation of endopeptidase activityManual Assertion Based On ExperimentIDA:BHF-UCL
Biological Process sensory perception of soundManual Assertion Based On ExperimentIMP:UniProtKB

Cytoplasm

Deafness, autosomal recessive, 91 (DFNB91):
A form of non-syndromic deafness characterized by progressive and age-dependent sensorineural hearing loss. Vestibular function is normal.