SERPINB6

Name

serpin family B member 6

Type

protein-coding

Position

2,944,468–2,972,375 (−)

Aliases

CAP, DFNB91, MSTP057, PI-6, PI6, PTI, SPI3

Ensembl

ENSG00000124570

RefSeq RNA

NM_001195291.3, NM_001271822.2, NM_001271823.2, NM_001271824.2, NM_001271825.2

RefSeq protein

NP_001182220.2, NP_001258751.1, NP_001258752.1, NP_001258753.1, NP_001258754.1

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].

via MyGene.info

Gene · Ensembl

serpin family B member 6

Symbol

SERPINB6

Biotype

Protein coding

Organism

Homo sapiens

Location

6:2,944,468-2,972,375

Strand

Reverse (−)

Assembly

GRCh38

Wikidata facts

via Wikidata · CC0