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This gene is a member of the plant homeodomain (PHD)-like finger (PHF) family. It encodes a protein with two PHD-type zinc finger domains, indicating a potential role in transcriptional regulation, that localizes to the nucleolus. Mutations affecting the coding region of this gene or the splicing of the transcript have been associated with Borjeson-Forssman-Lehmann syndrome (BFLS), a disorder characterized by mental retardation, epilepsy, hypogonadism, hypometabolism, obesity, swelling of subcutaneous tissue of the face, narrow palpebral fissures, and large ears. Alternate splicing results in multiple transcript variants, encoding different isoforms. [provided by RefSeq, Jun 2010]
[中文简述(自动翻译):]  该基因是植物同源(PHD)样手指(PHF)家族中的一员。它编码的蛋白质具有两个PHD型锌指结构域,这表明在转录调控中的潜在作用,其定位于核仁。影响该基因的编码区或转录本的剪接突变与Borjeson-Forssman - 莱曼综合征(BFLS),一个疾病的特点是智力低下,癫痫,性腺功能减退,代谢减退,肥胖,面部皮下组织肿胀有关窄睑裂,和大耳朵。在多个转录变异体选择性剪接的结果,编码不同亚型。 [由RefSeq的,2010年6月提供]
PHF6基因(以及对应的蛋白质)的细胞分布位置:
PHF6基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Borjeson-Forssman-Lehmann syndrome | 0.483800186 | 15 | 10 | BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT |
| Precursor T-Cell Lymphoblastic Leukemia-Lymphoma | 0.121628651 | 6 | 0 | BeFree_CTD_human |
| Leukemia, Myelocytic, Acute | 0.001357209 | 5 | 0 | BeFree |
| Intellectual Disability | 0.001085767 | 4 | 0 | BeFree |
| Coffin-Siris syndrome | 0.000814326 | 3 | 0 | BeFree |
| Mental Retardation, X-Linked | 0.000814326 | 3 | 0 | BeFree |
| Congenital Abnormality | 0.000542884 | 2 | 0 | BeFree |
| leukemia | 0.000542884 | 2 | 0 | BeFree |
| Pituitary Diseases | 0.000542884 | 2 | 1 | BeFree |
| Glioblastoma | 0.000271442 | 1 | 0 | BeFree |
| Hypogonadism | 0.000271442 | 1 | 0 | BeFree |
| Acute monocytic leukemia | 0.000271442 | 1 | 0 | BeFree |
| Precursor B-Cell Lymphoblastic Leukemia-Lymphoma | 0.000271442 | 1 | 0 | BeFree |
| Multiple Myeloma | 0.000271442 | 1 | 0 | BeFree |
| T-Cell Lymphoma | 0.000271442 | 1 | 0 | BeFree |
| Tumor Progression | 0.000271442 | 1 | 0 | BeFree |
| Acute Undifferentiated Leukemia | 0.000271442 | 1 | 0 | BeFree |
| Impaired cognition | 0.000271442 | 1 | 0 | BeFree |
| Hematopoietic Neoplasms | 0.000271442 | 1 | 0 | BeFree |
| Hematologic Neoplasms | 0.000271442 | 1 | 0 | BeFree |
| Carcinogenesis | 0.000271442 | 1 | 0 | BeFree |
| Precursor B-cell lymphoblastic leukemia | 0.000271442 | 1 | 0 | BeFree |
| M5b Acute differentiated monocytic leukemia | 0.000271442 | 1 | 0 | BeFree |
| Liver carcinoma | 0.000271442 | 1 | 0 | BeFree |
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