SERPINB6 gene

serpin family B member 6

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Deafness, autosomal recessive 91

From UniProt:

Deafness, autosomal recessive, 91 (DFNB91): A form of non-syndromic deafness characterized by progressive and age-dependent sensorineural hearing loss. Vestibular function is normal. [MIM:613453]

Cytogenetic Location: 6p25.2, which is the short (p) arm of chromosome 6 at position 25.2

Molecular Location: base pairs 2,948,159 to 2,972,165 on chromosome 6 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 6p25.2, which is the short (p) arm of chromosome 6 at position 25.2
  • CAP
  • DFNB91
  • MSTP057
  • PI-6
  • PI6
  • PTI
  • SPI3