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The reciprocal translocation t(1;3)(p36;q21) occurs in a subset of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). This gene is located near the 1p36.3 breakpoint and has been shown to be specifically expressed in the t(1:3)(p36,q21)-positive MDS/AML. The protein encoded by this gene is a zinc finger transcription factor and contains an N-terminal PR domain. The translocation results in the overexpression of a truncated version of this protein that lacks the PR domain, which may play an important role in the pathogenesis of MDS and AML. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  的相互易位(1; 3)(P36; Q21)发生在骨髓增生异常综合征(MDS)和急性骨髓性白血病(AML)的子集。这个基因位于靠近1p36.3断点并已被证明在T(1:3)中特异性表达(P36,Q21)阳性的MDS / AML。由该基因编码的蛋白质是一个锌指转录因子,并包含一个N-末端PR域。易位导致的这种蛋白的缺少PR域,其可以在MDS和AML的发病机制中发挥重要作用的截短版本的过表达。已经报道了编码不同同种型的可变剪接转录物变体。 [由RefSeq的,2008年7月提供]
PRDM16基因(以及对应的蛋白质)的细胞分布位置:
PRDM16基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Migraine Disorders | 0.243452799 | 5 | 4 | BeFree_CTD_human_GAD_GWASCAT |
| LEFT VENTRICULAR NONCOMPACTION 8 | 0.24 | 1 | 2 | CLINVAR_UNIPROT |
| Chromosome 1p36 Deletion Syndrome | 0.120542884 | 2 | 0 | BeFree_ORPHANET |
| Left ventricular noncompaction | 0.120271442 | 1 | 0 | BeFree_ORPHANET |
| Motion Sickness | 0.12 | 1 | 1 | GWASCAT |
| Allergic rhinitis (disorder) | 0.12 | 1 | 1 | GWASCAT |
| leukemia | 0.008163119 | 10 | 0 | BeFree_LHGDN |
| Leukemia, Myelocytic, Acute | 0.005438769 | 10 | 0 | BeFree_LHGDN |
| Down Syndrome | 0.002995792 | 1 | 0 | BeFree_LHGDN |
| Chronic granulomatous disease | 0.00272435 | 1 | 0 | LHGDN |
| Myeloid Leukemia | 0.00272435 | 1 | 0 | LHGDN |
| Adult T-Cell Lymphoma/Leukemia | 0.00272435 | 1 | 0 | LHGDN |
| MYELODYSPLASTIC SYNDROME | 0.00272435 | 1 | 0 | LHGDN |
| Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
| melanoma | 0.001628651 | 6 | 0 | BeFree |
| Cardiomyopathy, Dilated | 0.000542884 | 2 | 0 | BeFree |
| Obesity | 0.000542884 | 2 | 0 | BeFree |
| Leukemogenesis | 0.000542884 | 2 | 0 | BeFree |
| Cardiomyopathies | 0.000542884 | 2 | 0 | BeFree |
| Bone Diseases | 0.000271442 | 1 | 0 | BeFree |
| Diabetes Mellitus, Non-Insulin-Dependent | 0.000271442 | 1 | 0 | BeFree |
| Heart Diseases | 0.000271442 | 1 | 0 | BeFree |
| Heart failure | 0.000271442 | 1 | 0 | BeFree |
| Congestive heart failure | 0.000271442 | 1 | 0 | BeFree |
| Myeloid Leukemia, Chronic | 0.000271442 | 1 | 0 | BeFree |
| Osteopoikilosis (disorder) | 0.000271442 | 1 | 0 | BeFree |
| Retinoblastoma | 0.000271442 | 1 | 0 | BeFree |
| pediatric acute myeloblastic leukemia | 0.000271442 | 1 | 0 | BeFree |
| Miller Dieker syndrome | 0.000271442 | 1 | 0 | BeFree |
| Common Migraine | 0.000271442 | 1 | 1 | BeFree |
| Dissecting aneurysm of the thoracic aorta | 0.000271442 | 1 | 0 | BeFree |
| Acute Myeloid Leukemia Arising from Previous Myelodysplastic Syndrome | 0.000271442 | 1 | 0 | BeFree |
| Mixed sclerosing bone dystrophy | 0.000271442 | 1 | 0 | BeFree |
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