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Otoancorin pseudogene 1 (OTOAP1)
- Target
- OTOAP1
- Molecular classification
- Pseudogene, Processed pseudogene
01
Overview
Otoancorin pseudogene 1 (OTOAP1) is a processed pseudogene related to the otoancorin gene (OTOA), primarily found on chromosome 16. While it shares sequence homology with OTOA, it does not encode a functional protein. Its clinical significance arises from rare gene conversion events where segments of OTOAP1 replace parts of OTOA, leading to premature stop codons and a loss of function in the OTOA gene, which is associated with autosomal recessive non-syndromic hearing loss. Unlike protein-coding gene targets, OTOAP1 is not a canonical therapeutic target or receptor but may serve as a genetic marker in genomic studies of inherited deafness
- Other names
- OTOA pseudogene 1OTOAP1otoancorin pseudogene
02
Mechanism of action
None applicable, as OTOAP1 is not a drug target. However, gene conversion events involving OTOAP1 can introduce loss-of-function variants in OTOA, resulting in disease
03
Biological functions
None directly as a protein or enzyme; typical of pseudogenes, OTOAP1 does not have a direct protein functionMay be involved in gene conversion events affecting the parental gene OTOA, impacting hearing lossMay exert regulatory RNA functions as observed in other pseudogenes, such as microRNA sponging or ceRNA effects, but no specific functional data for OTOAP1
04
Disease associations
Indirect involvement in deafness and hearing loss, by mediating gene conversion events that disrupt the OTOA gene, resulting in pathogenic changesNo direct disease association as a gene product; its impact is usually mediated through genomic rearrangements
05
Biomarkers
None established for OTOAP1 itself. Its involvement in pathogenic gene conversion may be detectable by genomic assays in the context of hearing loss
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