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The protein encoded by this gene is a histone acetyltransferase and component of the MOZ/MORF protein complex. In addition to its acetyltransferase activity, the encoded protein has transcriptional activation activity in its N-terminal end and transcriptional repression activity in its C-terminal end. This protein is necessary for RUNX2-dependent transcriptional activation and could be involved in brain development. Mutations have been found in patients with genitopatellar syndrome. A translocation of this gene and the CREBBP gene results in acute myeloid leukemias. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012]
[中文简述(自动翻译):]  由该基因编码的蛋白质是MOZ / MORF蛋白复合物的组蛋白乙酰转移酶和组件。除了它的乙酰转移酶活性,所编码的蛋白质具有在其C末端在其N末端转录激活活性和转录抑制活性。这种蛋白质是必需的RUNX2依赖性转录激活和可参与脑发育。突变的患者genitopatellar综合征被发现。这种基因的易位和急性髓细胞白血病的基因CREBBP结果。已发现该基因编码不同亚型三个抄本变形。 [由RefSeq的,2012年3月提供]
KAT6B基因(以及对应的蛋白质)的细胞分布位置:
KAT6B基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Genitopatellar Syndrome | 0.241357209 | 5 | 6 | BeFree_CLINVAR_ORPHANET |
Young Simpson syndrome | 0.240542884 | 2 | 8 | BeFree_CLINVAR_ORPHANET |
Noonan Syndrome | 0.120271442 | 1 | 0 | BeFree_ORPHANET |
Cardiovascular Diseases | 0.002367032 | 1 | 1 | GAD |
Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
Leukemia, Myelocytic, Acute | 0.001628651 | 6 | 0 | BeFree |
Blepharophimosis syndrome Ohdo type | 0.001357209 | 5 | 0 | BeFree |
leukemia | 0.000542884 | 2 | 0 | BeFree |
Malocclusion | 0.000542884 | 2 | 0 | BeFree |
Uterine Fibroids | 0.000542884 | 2 | 0 | BeFree |
pediatric acute myeloblastic leukemia | 0.000542884 | 2 | 0 | BeFree |
Congenital chromosomal disease | 0.000271442 | 1 | 0 | BeFree |
Rubinstein-Taybi Syndrome | 0.000271442 | 1 | 0 | BeFree |
Small cell carcinoma of lung | 0.000271442 | 1 | 0 | BeFree |
Leukemogenesis | 0.000271442 | 1 | 0 | BeFree |
Tumor Initiation | 0.000271442 | 1 | 0 | BeFree |
Bipolar I disorder | 0.000271442 | 1 | 3 | BeFree |
Therapy-related myelodysplastic syndrome | 0.000271442 | 1 | 0 | BeFree |
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