WDR12
Description
The WDR12 (WD repeat domain 12) is a protein-coding gene located on chromosome 2.
WDR12, a ribosome biogenesis protein, is encoded by the WDR12 gene located on chromosome 2 in humans. It is expressed in various tissues and cell types. WDR12 is part of the PeBoW complex, which plays a role in ribosome biogenesis and cell proliferation. This protein has been linked to cardiovascular diseases such as coronary artery disease and myocardial infarction. The PCSK9 gene is also associated with an increased risk of coronary artery disease. The WDR12 gene spans 13 exons on chromosome 2 at the band 2q33.2. WDR12 belongs to the WD repeat WDR12/YTM1 family and contains 7 WD repeats. Each repeat contains a C-terminal tryptophan-aspartic acid dipeptide and an N-terminal glycine-histidine dipeptide. These WD repeats contribute to the protein's propeller-like structure and its localization in the nucleolus. WDR12 also has a ubiquitin-like (UBL) domain at its N-terminus, which contains a β-grasp fold similar to ubiquitin.
WDR12 is also known as YTM1.
Associated Diseases
- coronary atherosclerosis
- migraine disorder
- ringed hair disease
- Griscelli syndrome type 3
- uncombable hair syndrome
