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dfnb59

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Official Full Name
deafness, autosomal recessive 59
Background
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).
Synonyms
DFNB59; deafness, autosomal recessive 59; pejvakin; autosomal recessive deafness type 59 protein; PJVK