MYBBP1A
Description
The MYBBP1A (MYB binding protein 1a) is a protein-coding gene located on chromosome 17.
MYBBP1A is a protein encoded by the MYBBP1A gene in humans.
MYBBP1A can influence gene expression by interacting with specific DNA-binding proteins, leading to either activation or repression of transcription. Repression can be achieved through its histone deacetylase activity. MYBBP1A works as a corepressor, partnering with CRY1 to suppress the transcription of the PER2 gene, a crucial part of the circadian clock. It exhibits a preference for binding to dimethylated histone H3 lysine 9 (H3K9me2) on the PER2 promoter. Additionally, MYBBP1A plays a role in rRNA biogenesis in collaboration with PWP1.
MYBBP1A is also known as P160, PAP2, Pol5.
Associated Diseases
- endometrial cancer
- lysosomal storage disease
- primary familial polycythemia due to EPO receptor mutation
- hemoglobin E-beta-thalassemia syndrome
- dehydrated hereditary stomatocytosis
- familial pseudohyperkalemia
- hemolytic anemia due to diphosphoglycerate mutase deficiency
- beta-thalassemia-X-linked thrombocytopenia syndrome
- hemoglobin D disease
- hemochromatosis type 5
- cryohydrocytosis
- erythrocytosis, familial, 3
- erythrocytosis, familial, 6
