SERPINB6
Function
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.
Involvement in disease
Deafness, autosomal recessive, 91
DFNB91
A form of non-syndromic deafness characterized by progressive and age-dependent sensorineural hearing loss. Vestibular function is normal.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the serpin family. Ov-serpin subfamily.
Tissue Specificity
Expressed in keratinocytes (at protein level). Highest levels in skeletal muscle. Also found in placenta, cardiac muscle, lung, liver, kidney and pancreas. Expressed in the inner ear hair cells. Expressed abundantly by normal mast cells in different tissues and by mast cells in mastocytoma lesions.
Cellular localization
- Cytoplasm
Alternative names
PI6, PTI, SERPINB6, Serpin B6, Cytoplasmic antiproteinase, Peptidase inhibitor 6, Placental thrombin inhibitor, CAP, PI-6