PDZD7
Description
The PDZD7 (PDZ domain containing 7) is a protein-coding gene located on chromosome 10.
During the development of cochlear hair cells, PDZD7 plays a crucial role in assembling the USH2 complex at the ankle links of stereocilia. Additionally, PDZD7 prevents ADGRV1 from inhibiting adenylate cyclase activity.
PDZD7 is also known as DFNB57, PDZK7.
Associated Diseases
- Deafness, autosomal recessive 57
- Usher syndrome, type IIC
- Usher syndrome, type IIA
- Usher syndrome type 2
