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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].
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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 (July 2007). "Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment". Hum. Mutat. 28 (7): 718–23. doi:10.1002/humu.20510. PMID17373699. S2CID37864188.
Hashemzadeh Chaleshtori M, Simpson MA, Farrokhi E, Dolati M, Hoghooghi Rad L, Amani Geshnigani S, Crosby AH (September 2007). "Novel mutations in the pejvakin gene are associated with autosomal recessive non-syndromic hearing loss in Iranian families". Clin. Genet. 72 (3): 261–3. doi:10.1111/j.1399-0004.2007.00852.x. PMID17718865. S2CID12661287.
Xu S, Chen Z, Lu Y, Wei Q, Cao X, Xing G, Bu X (October 2008). "[Sequence analysis of DFNB59 gene in a Chinese family with dominantly inherited auditory neuropathy]". Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi (in Chinese). 22 (19): 880–2. PMID19160860.
Borck G, Rainshtein L, Hellman-Aharony S, Volk AE, Friedrich K, Taub E, Magal N, Kanaan M, Kubisch C, Shohat M, Basel-Vanagaite L (September 2012). "High frequency of autosomal-recessive DFNB59 hearing loss in an isolated Arab population in Israel". Clin. Genet. 82 (3): 271–6. doi:10.1111/j.1399-0004.2011.01741.x. PMID21696384. S2CID7014274.