Pejvakin Explained

Pejvakin is a protein that in humans is encoded by the PJVK gene.^[1]

Function

See also: Nonsyndromic deafness. The protein encoded by this gene is a member of the gasdermin family, a family which is found only in vertebrates. The encoded protein is required for the proper function of auditory pathway neurons. Defects in this gene are a cause of non-syndromic sensorineural deafness autosomal recessive type 59 (DFNB59). [provided by RefSeq, Dec 2008].

Further reading

• Delmaghani S, del Castillo FJ, Michel V, Leibovici M, Aghaie A, Ron U, Van Laer L, Ben-Tal N, Van Camp G, Weil D, Langa F, Lathrop M, Avan P, Petit C . Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy . Nat. Genet. . 38 . 7 . 770–8 . July 2006 . 16804542 . 10.1038/ng1829 . 2443891 .
• Ebermann I, Walger M, Scholl HP, Charbel Issa P, Lüke C, Nürnberg G, Lang-Roth R, Becker C, Nürnberg P, Bolz HJ . Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction . Hum. Mutat. . 28 . 6 . 571–7 . June 2007 . 17301963 . 10.1002/humu.20478 . 23186967 . free .
• Collin RW, Kalay E, Oostrik J, Caylan R, Wollnik B, Arslan S, den Hollander AI, Birinci Y, Lichtner P, Strom TM, Toraman B, Hoefsloot LH, Cremers CW, Brunner HG, Cremers FP, Karaguzel A, Kremer H . Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment . Hum. Mutat. . 28 . 7 . 718–23 . July 2007 . 17373699 . 10.1002/humu.20510 . 37864188 .
• Hashemzadeh Chaleshtori M, Simpson MA, Farrokhi E, Dolati M, Hoghooghi Rad L, Amani Geshnigani S, Crosby AH . Novel mutations in the pejvakin gene are associated with autosomal recessive non-syndromic hearing loss in Iranian families . Clin. Genet. . 72 . 3 . 261–3 . September 2007 . 17718865 . 10.1111/j.1399-0004.2007.00852.x . 12661287 .
• Xu S, Chen Z, Lu Y, Wei Q, Cao X, Xing G, Bu X . [Sequence analysis of DFNB59 gene in a Chinese family with dominantly inherited auditory neuropathy] . zh . Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi . 22 . 19 . 880–2 . October 2008 . 19160860 .
• Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE, Hingorani AD . Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip . Am. J. Hum. Genet. . 85 . 5 . 628–42 . November 2009 . 19913121 . 2775832 . 10.1016/j.ajhg.2009.10.014 .
• Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S . Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study . Diabetes Care . 33 . 10 . 2250–3 . October 2010 . 20628086 . 2945168 . 10.2337/dc10-0452 .
• Mahdieh N, Rabbani B, Wiley S, Akbari MT, Zeinali S . Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations . J. Hum. Genet. . 55 . 10 . 639–48 . October 2010 . 20739942 . 10.1038/jhg.2010.96 . free .
• Borck G, Rainshtein L, Hellman-Aharony S, Volk AE, Friedrich K, Taub E, Magal N, Kanaan M, Kubisch C, Shohat M, Basel-Vanagaite L . High frequency of autosomal-recessive DFNB59 hearing loss in an isolated Arab population in Israel . Clin. Genet. . 82 . 3 . 271–6 . September 2012 . 21696384 . 10.1111/j.1399-0004.2011.01741.x . 7014274 .

Notes and References

1. Web site: Entrez Gene: Pejvakin. 2020-05-18.