ANKRD52
Description
The ANKRD52 (ankyrin repeat domain 52) is a protein-coding gene located on chromosome 12.
This protein is thought to act as a regulatory subunit for protein phosphatase 6 (PP6), potentially playing a role in identifying and binding to phosphorylated proteins.
ANKRD52 is also known as ANKRD33, ARSC.
Associated Diseases
- nanophthalmia
- nanophthalmos 2
- cancer
- premature ovarian failure 12
- microphthalmia, isolated, with coloboma 10
- microphthalmia, isolated, with coloboma 5
- microphthalmia, isolated, with coloboma 7
- anophthalmia plus syndrome
- Mobius syndrome
