Recombinant Human Serpin B6 (SERPINB6)

Uniprot Id

P35237

Target Species

Human

Target Name

SERPINB6

Target Full Name

Serpin B6

Target Function

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.

Target Involvement

Deafness, autosomal recessive, 91 (DFNB91)

Target Subcellular Location

Cytoplasm.

Target Protein Families

Serpin family, Ov-serpin subfamily

Target 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 tissu

Target Synonyms

CAP; Cytoplasmic antiproteinase; Peptidase inhibitor 6; PI-6; PI6; Placental thrombin inhibitor; Protease inhibitor 6 (placental thrombin inhibitor); PTI; Serpin B6; SERPINB6; SPB6_HUMAN

Target Background

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.