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This gene is a member of the paired box (PAX) family of transcription factors. Members of the PAX family typically contain a paired box domain and a paired-type homeodomain. These genes play critical roles during fetal development. This gene plays a role in pattern formation during embryogenesis and may be essential for development of the vertebral column. This gene is silenced by methylation in ovarian and cervical cancers and may be a tumor suppressor gene. Mutations in this gene are also associated with vertebral malformations. [provided by RefSeq, Mar 2012]
[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。在PAX家族的成员通常包含一个配对盒域和配对型同源。这些基因胚胎发育过程中发挥关键作用。这个基因起着胚胎发生期间在图案形成作用并可以是用于脊柱的发展是至关重要的。此基因是通过在卵巢癌和子宫颈癌甲基化沉默,可能是一种肿瘤抑制基因。在这个基因的突变也与脊椎畸形。 [由RefSeq的,2012年3月提供]
PAX1基因(以及对应的蛋白质)的细胞分布位置:
PAX1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
OTOFACIOCERVICAL SYNDROME 2 | 0.24 | 1 | 1 | CLINVAR_UNIPROT |
Fara Chlupackova syndrome | 0.12 | 0 | 0 | ORPHANET |
Androgenetic Alopecia | 0.004734064 | 2 | 2 | GAD |
Scoliosis, unspecified | 0.002367032 | 1 | 0 | GAD |
Malignant tumor of cervix | 0.001085767 | 4 | 0 | BeFree |
Cervix carcinoma | 0.001085767 | 4 | 0 | BeFree |
High-Grade Squamous Intraepithelial Lesions | 0.001085767 | 4 | 0 | BeFree |
Congenital Abnormality | 0.000814326 | 3 | 0 | BeFree |
Squamous cell carcinoma | 0.000542884 | 2 | 0 | BeFree |
Klippel-Feil Syndrome | 0.000542884 | 2 | 0 | BeFree |
Spina Bifida | 0.000542884 | 2 | 0 | BeFree |
Jarcho-Levin syndrome | 0.000542884 | 2 | 0 | BeFree |
Uterine Cervical Neoplasm | 0.000271442 | 1 | 0 | BeFree |
Macrocephaly | 0.000271442 | 1 | 0 | BeFree |
Irido-corneo-trabecular dysgenesis (disorder) | 0.000271442 | 1 | 1 | BeFree |
Defect of vertebral segmentation | 0.000271442 | 1 | 0 | BeFree |
Congenital scoliosis | 0.000271442 | 1 | 0 | BeFree |
Idiopathic scoliosis | 0.000271442 | 1 | 0 | BeFree |
AICARDI-GOUTIERES SYNDROME 1 | 0.000271442 | 1 | 0 | BeFree |
Otofaciocervical Syndrome | 0.000271442 | 1 | 0 | BeFree |
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT | 0.000271442 | 1 | 0 | BeFree |
Orofacial cleft | 0.000271442 | 1 | 0 | BeFree |
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