CCDC90B
Description
The CCDC90B (coiled-coil domain containing 90B) is a protein-coding gene located on chromosome 11.
The CCDC90B gene, located on chromosome 11, encodes the protein Coiled coil domain containing 90B (CCDC90B). This protein contains a domain of unknown function (DUF1640) and seven predicted alpha helices, characteristic of coiled-coil proteins. The first 23 amino acids, acting as a mitochondrial targeting site, are cleaved from the protein, indicating its localization within mitochondria. CCDC90B is predicted to have several phosphorylation sites and has been shown to interact with the mitochondrial calcium uniporter (MCU). Its specific role and function remain to be fully elucidated.
CCDC90B is also known as MDS011, MDS025.
Associated Diseases
- schizophrenia
- anorexia nervosa
- Parkinson disease
- refractive error
- Crigler-Najjar syndrome type 2
- Alzheimer disease
