功能： disease:Defects in BCOR are the cause of microphthalmia syndromic type 2 (MCOPS2) [MIM:300166]. Microphthalmia is a clinically heterogeneous disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. MCOPS2 is a very rare multiple congenital anomaly syndrome characterized by eye anomalies (congenital cataract, microphthalmia, or secondary glaucoma), facial abnormalities (long narrow face, high nasal bridge, pointed nose with cartilages separated at the tip, cleft palate, or submucous cleft palate), cardiac anomalies (atrial septal defect, ventricular septal defect, or floppy mitral valve) and dental abnormalities (canine radiculomegaly, delayed dentition, oligodontia, persistent primary teeth, or variable root length).,function:Transcriptional corepressor. May specifically inhibit gene expression when recruited to promoter regions by sequence specific DNA-binding proteins such as BCL6 and MLLT3. This repression may be mediated at least in part by histone deacetylase activities which can associate with this corepressor.,sequence caution:Contaminating sequence. Presence of complementary strand sequence in the clone.,sequence caution:Intron retention.,similarity:Belongs to the BCOR family.,similarity:Contains 3 ANK repeats.,subunit:Isoform 1 may interact with MLLT3/AF9 (By similarity). Interacts with BCL6. Can interact with HDAC1, HDAC3 and HDAC5. Component of repressive BCOR complex containing Polycomb group subcomplex at least composed of RYBP, PCGF1, RING1 and RNF2/RING2.,tissue specificity:Ubiquitously expressed.,
功能： disease:Defects in BCOR are the cause of microphthalmia syndromic type 2 (MCOPS2) [MIM:300166]. Microphthalmia is a clinically heterogeneous disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. MCOPS2 is a very rare multiple congenital anomaly syndrome characterized by eye anomalies (congenital cataract, microphthalmia, or secondary glaucoma), facial abnormalities (long narrow face, high nasal bridge, pointed nose with cartilages separated at the tip, cleft palate, or submucous cleft palate), cardiac anomalies (atrial septal defect, ventricular septal defect, or floppy mitral valve) and dental abnormalities (canine radiculomegaly, delayed dentition, oligodontia, persistent primary teeth, or variable root length).,function:Transcriptional corepressor. May specifically inhibit gene expression when recruited to promoter regions by sequence specific DNA-binding proteins such as BCL6 and MLLT3. This repression may be mediated at least in part by histone deacetylase activities which can associate with this corepressor.,sequence caution:Contaminating sequence. Presence of complementary strand sequence in the clone.,sequence caution:Intron retention.,similarity:Belongs to the BCOR family.,similarity:Contains 3 ANK repeats.,subunit:Isoform 1 may interact with MLLT3/AF9 (By similarity). Interacts with BCL6. Can interact with HDAC1, HDAC3 and HDAC5. Component of repressive BCOR complex containing Polycomb group subcomplex at least composed of RYBP, PCGF1, RING1 and RNF2/RING2.,tissue specificity:Ubiquitously expressed.,
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