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This gene encodes a member of the MOZ, YBFR2, SAS2, TIP60 family of histone acetyltransferases. The protein is composed of a nuclear localization domain, a double C2H2 zinc finger domain that binds to acetylated histone tails, a histone acetyl-transferase domain, a glutamate/aspartate-rich region, and a serine- and methionine-rich transactivation domain. It is part of a complex that acetylates lysine-9 residues in histone 3, and in addition, it acts as a co-activator for several transcription factors. Allelic variants of this gene are associated with autosomal dominant mental retardation-32. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
[中文简述(自动翻译):]  该基因编码的MOZ,YBFR2,SAS2,TIP60家庭组蛋白乙酰转移酶中的一员。该蛋白质是由核定位结构域,结合于乙酰化组蛋白尾部,组蛋白乙酰基转移酶结构域,谷氨酸/富天冬氨酸区的双C2H2型锌指结构域和丝氨酸和富含蛋氨酸激活结构域的。它是乙酰化组蛋白3赖氨酸9残基的复合物的一部分,此外,它作为共活化剂为几个转录因子。该基因的等位基因变体是常染色体显性遗传智力低下-32相关联。选择性剪接结果在多个抄本变形。 [由RefSeq的,2015年4月提供]
KAT6A基因(以及对应的蛋白质)的细胞分布位置:
KAT6A基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Adenoid Cystic Carcinoma | 0.12 | 1 | 0 | CTD_human |
| Medulloblastoma | 0.12 | 1 | 0 | CTD_human |
| DiGeorge Syndrome | 0.08 | 0 | 0 | MGD |
| Liver Neoplasms, Experimental | 0.08 | 1 | 0 | RGD |
| Leukemia, Myelocytic, Acute | 0.013320515 | 29 | 0 | BeFree_LHGDN |
| leukemia | 0.005438769 | 11 | 0 | BeFree_LHGDN |
| Leukemogenesis | 0.002171535 | 8 | 0 | BeFree |
| M5b Acute differentiated monocytic leukemia | 0.001628651 | 6 | 0 | BeFree |
| Monocytic leukemia | 0.001357209 | 5 | 0 | BeFree |
| Acute leukemia | 0.001085767 | 4 | 0 | BeFree |
| Acute monocytic leukemia | 0.000814326 | 3 | 0 | BeFree |
| Acute myelomonocytic leukemia | 0.000814326 | 3 | 0 | BeFree |
| Treatment related acute myeloid leukaemia | 0.000814326 | 3 | 0 | BeFree |
| Therapy-related myelodysplastic syndrome | 0.000542884 | 2 | 0 | BeFree |
| Mixed phenotype acute leukemia | 0.000542884 | 2 | 0 | BeFree |
| Congenital Abnormality | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of breast | 0.000271442 | 1 | 0 | BeFree |
| Congenital chromosomal disease | 0.000271442 | 1 | 0 | BeFree |
| Acute lymphocytic leukemia | 0.000271442 | 1 | 0 | BeFree |
| Uterine Fibroids | 0.000271442 | 1 | 0 | BeFree |
| Neonatal leukaemia | 0.000271442 | 1 | 0 | BeFree |
| Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Sarcoma | 0.000271442 | 1 | 0 | BeFree |
| Precursor Cell Lymphoblastic Leukemia Lymphoma | 0.000271442 | 1 | 0 | BeFree |
| Intellectual Disability | 0.000271442 | 1 | 0 | BeFree |
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