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The protein encoded by this gene contains a THAP domain, a conserved DNA-binding domain. This protein colocalizes with the apoptosis response protein PAWR/PAR-4 in promyelocytic leukemia (PML) nuclear bodies, and functions as a proapoptotic factor that links PAWR to PML nuclear bodies. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  由该基因编码的蛋白质包含一个THAP结构域,保守的DNA结合结构域。这种蛋白质与共定位凋亡响应蛋白PAWR / PAR-4在早幼粒细胞白血病(PML)核机构,并且用作链接PAWR到PML核小体一个促凋亡因子。编码不同同种型的可变剪接转录物变体已观察到。 [由RefSeq的,2008年7月提供]
THAP1基因(以及对应的蛋白质)的细胞分布位置:
THAP1基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Dystonia 6, torsion (disorder) | 0.480542884 | 16 | 5 | BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT |
| Dystonia | 0.137415887 | 39 | 0 | BeFree_CTD_human_GAD |
| Dystonia Disorders | 0.134777413 | 38 | 0 | BeFree_CTD_human_GAD |
| Dystonia, Primary | 0.005700279 | 21 | 0 | BeFree |
| DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT | 0.002714419 | 10 | 0 | BeFree |
| Dystonia Musculorum Deformans | 0.002442977 | 9 | 0 | BeFree |
| Generalized dystonia | 0.002171535 | 8 | 0 | BeFree |
| Pili torti-deafness syndrome | 0.001357209 | 5 | 0 | BeFree |
| Cervical Dystonia | 0.001357209 | 5 | 0 | BeFree |
| Spastic Dysphonia | 0.000542884 | 2 | 0 | BeFree |
| Focal Dystonia | 0.000542884 | 2 | 0 | BeFree |
| Familial Dystonia | 0.000542884 | 2 | 0 | BeFree |
| Dystonia 3, Torsion, X-Linked | 0.000542884 | 2 | 0 | BeFree |
| Precursor T-Cell Lymphoblastic Leukemia-Lymphoma | 0.000542884 | 2 | 0 | BeFree |
| Segmental dystonia | 0.000542884 | 2 | 0 | BeFree |
| Oromandibular dystonia | 0.000542884 | 2 | 0 | BeFree |
| Blepharospasm | 0.000271442 | 1 | 0 | BeFree |
| Dyskinetic syndrome | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of stomach | 0.000271442 | 1 | 0 | BeFree |
| Myoclonus | 0.000271442 | 1 | 0 | BeFree |
| Parkinson Disease | 0.000271442 | 1 | 0 | BeFree |
| Motor symptoms | 0.000271442 | 1 | 0 | BeFree |
| Stomach Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Adult-Onset Dystonias | 0.000271442 | 1 | 0 | BeFree |
| Basal ganglia calcification | 0.000271442 | 1 | 0 | BeFree |
| Laryngeal dystonia | 0.000271442 | 1 | 0 | BeFree |
| Benign essential blepharospasm | 0.000271442 | 1 | 0 | BeFree |
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