Gene Symbol | PJVK |
Entrez Gene ID | 494513 |
Full Name | pejvakin |
Synonyms | DFNB59 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Deafness, autosomal recessive 59, 610220 (3) |