OTOR
Description
The OTOR (otoraplin) is a protein-coding gene located on chromosome 20.
Otoraplin is a protein produced in humans by the OTOR gene. It's released through the Golgi apparatus and helps in maintaining and growing cartilage. A common change in the gene's starting point can stop protein production and might be connected to some types of deafness. This gene is part of a group of genes called the melanoma-inhibiting activity gene family. Also, this gene can have different ending points for making the protein.
Otoraplin, a protein encoded by the OTOR gene, is secreted through the Golgi apparatus and plays a crucial role in cartilage development and maintenance. Variations in the gene's translation start codon can disrupt protein synthesis, potentially leading to hearing loss. This gene belongs to the melanoma-inhibiting activity gene family.
OTOR is also known as FDP, MIAL1.