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This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. The paired box 4 gene is involved in pancreatic islet development and mouse studies have demonstrated a role for this gene in differentiation of insulin-producing beta cells. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  此基因是配对盒(PAX)家族的转录因子的成员。此基因家族成员通常包含配对盒结构域,八肽,以及一个成对型同源异型域。这些基因发挥胎儿的发育和肿瘤生长过程中的关键作用。配对盒4基因参与胰岛发育和小鼠的研究已经证明了该基因在产生胰岛素的β细胞的分化的作用。 [由RefSeq的,2008年7月提供]
PAX4基因(以及对应的蛋白质)的细胞分布位置:
PAX4基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Diabetes Mellitus, Non-Insulin-Dependent | 0.458002378 | 15 | 4 | BeFree_CLINVAR_CTD_human_GAD_RGD_UNIPROT |
| MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9 (disorder) | 0.36 | 1 | 1 | CLINVAR_CTD_human_UNIPROT |
| Diabetes Mellitus, Insulin-Dependent | 0.251368221 | 8 | 1 | BeFree_CTD_human_GAD_UNIPROT |
| melanoma | 0.122995792 | 1 | 0 | BeFree_CTD_human_LHGDN |
| Hematologic Neoplasms | 0.002995792 | 1 | 0 | BeFree_LHGDN |
| Insulin Resistance | 0.002367032 | 1 | 0 | GAD |
| Kidney Failure, Chronic | 0.002367032 | 1 | 0 | GAD |
| Metabolic Syndrome X | 0.002367032 | 1 | 0 | GAD |
| Precursor Cell Lymphoblastic Leukemia Lymphoma | 0.002367032 | 1 | 0 | GAD |
| Diabetes Mellitus | 0.001628651 | 6 | 0 | BeFree |
| Diabetes | 0.001357209 | 5 | 0 | BeFree |
| Maturity onset diabetes mellitus in young | 0.001357209 | 5 | 1 | BeFree |
| Hyperglycemia | 0.000271442 | 1 | 0 | BeFree |
| Ketosis | 0.000271442 | 1 | 0 | BeFree |
| Nevus | 0.000271442 | 1 | 0 | BeFree |
| Melanocytic nevus | 0.000271442 | 1 | 0 | BeFree |
| Neonatal diabetes mellitus | 0.000271442 | 1 | 0 | BeFree |
| Multiple tumors | 0.000271442 | 1 | 0 | BeFree |
| Wolcott-Rallison syndrome | 0.000271442 | 1 | 0 | BeFree |
| Benign melanocytic nevus | 0.000271442 | 1 | 0 | BeFree |
| Melanocytic nevus of skin | 0.000271442 | 1 | 0 | BeFree |
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