SAP30
Description
The SAP30 (Sin3A associated protein 30) is a protein-coding gene located on chromosome 4.
SAP30 is a protein encoded by the SAP30 gene in humans. It is a component of the histone deacetylase complex, which modifies histones to regulate gene expression. This complex includes SIN3A, SAP18, HDAC1, HDAC2, RbAp46, RbAp48, and other proteins. SAP30 is involved in deacetylating core histone octamers, but not nucleosomal histones. Mammals also have a related protein called SAP30L, which shares 70% sequence identity with SAP30. Both SAP30 and SAP30L can bind to the Sin3A corepressor complex and repress transcription. SAP30 family proteins have a nucleolar localization signal and can target Sin3A to the nucleolus.
SAP30 is involved in the recruitment of the Sin3-histone deacetylase complex (HDAC) to a specific subset of N-CoR corepressor complexes. It can repress transcription via N-CoR. The complex is active in deacetylating core histone octamers but inactive in deacetylating nucleosomal histones.
SAP30 is also known as -.
Associated Diseases
- breast cancer
- hemoglobin D disease
- hemoglobin E disease
- dominant beta-thalassemia
- diabetes mellitus, permanent neonatal 4
- diabetes mellitus, transient neonatal, 3
- delta-beta-thalassemia
- alpha-thalassemia-myelodysplastic syndrome
- hemoglobin C-beta-thalassemia syndrome
- hemoglobin E-beta-thalassemia syndrome
- permanent neonatal diabetes mellitus 1
- hemoglobin H disease
