MYBBP1A

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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