Pejvakin

approved gene symbol: PJVK. The gene has been cloned by Delmaghani et al (2006). Sequence analysis shows that Pejvakin belongs to a family of pore-forming proteins known as gasdermins.

Mutations in this gene are the cause of a form of autosomal recessive nonsyndromic hearing impairment (hence the alternative designation: DFNB59 [autosomal recessive deafness 59]) (Delmaghani et al (2006; Collin et al, 2007; Ebermann et al, 2007). Schwander et al (2007) have reported that Pejvakin is essential for outer hair cell function. Kazmierczak M et al (2017) have reported a cell-autonomous role of Pejvakin in maintaining stereocilia architecture that is critical for hair cell function, showing also that Pejvakin in neurons ... ... ... ...
 
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Entry last modified: November 2021