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This gene encodes a paired-like homeodomain transcription factor expressed in the mesenchyme of developing bones, limbs, hair, teeth, and mammary tissue. Mutations in this gene cause parietal foramina 2 (PFM2); an autosomal dominant disease characterized by deficient ossification of the parietal bones. Mutations in this gene also cause a form of frontonasal dysplasia with alopecia and hypogonadism; suggesting a role for this gene in craniofacial development, mesenchymal-epithelial communication, and hair follicle development. Deletion of a segment of chromosome 11 containing this gene, del(11)(p11p12), causes Potocki-Shaffer syndrome (PSS); a syndrome characterized by craniofacial anomalies, mental retardation, multiple exostoses, and genital abnormalities in males. In mouse, this gene has been shown to use dual translation initiation sites located 16 codons apart. [provided by RefSeq, Oct 2009]
[中文简述(自动翻译):]  该基因编码在显影骨头,四肢,毛发,牙齿,和乳房组织的间充质中表达的配对样同源结构域转录因子。突变这个基因导致胃壁椎间孔2(PFM2);常染色体显性遗传疾病的特点是顶骨的骨化缺陷。在这个基因的突变也导致脱发和性腺功能减退额鼻发育不全的一种形式;这表明该基因在颅面发育,骨髓间充质 - 上皮沟通,毛囊发展中的作用。 11号染色体的含有该基因,德尔(11)(p11p12)段的缺失,导致波托茨基-谢弗综合征(PSS);特征在于颅面畸形,智力低下,多发性外生骨疣,和在男性生殖器异常综合征。在小鼠,该基因已被证明使用位于相距16个密码子的双翻译起始位点。 [由RefSeq的,2009年10月提供]
ALX4基因(以及对应的蛋白质)的细胞分布位置:
ALX4基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| PARIETAL FORAMINA 2 | 0.44 | 2 | 9 | CLINVAR_CTD_human_MGD_UNIPROT |
| FRONTONASAL DYSPLASIA 2 | 0.44 | 0 | 2 | CLINVAR_CTD_human_MGD_ORPHANET |
| CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO | 0.24 | 1 | 2 | CLINVAR_UNIPROT |
| PARIETAL FORAMINA | 0.122171535 | 8 | 0 | BeFree_CTD_human |
| Chromosome 11p11.2 Deletion Syndrome | 0.121628651 | 6 | 0 | BeFree_ORPHANET |
| Polydactyly | 0.12 | 1 | 0 | CTD_human |
| Craniofacial Abnormalities | 0.12 | 1 | 0 | CTD_human |
| Diabetes Mellitus, Non-Insulin-Dependent | 0.002909916 | 3 | 5 | BeFree_GAD |
| Coronary heart disease | 0.002367032 | 1 | 0 | GAD |
| Diabetes Mellitus | 0.002367032 | 1 | 0 | GAD |
| HIV Infections | 0.002367032 | 1 | 0 | GAD |
| Colorectal Cancer | 0.001357209 | 5 | 0 | BeFree |
| Colorectal Carcinoma | 0.001085767 | 4 | 0 | BeFree |
| Adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
| Adenoma | 0.000271442 | 1 | 0 | BeFree |
| Malignant tumor of colon | 0.000271442 | 1 | 0 | BeFree |
| Hereditary Multiple Exostoses | 0.000271442 | 1 | 0 | BeFree |
| Medulloblastoma | 0.000271442 | 1 | 0 | BeFree |
| polyps | 0.000271442 | 1 | 0 | BeFree |
| Cholangiocarcinoma | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of lung | 0.000271442 | 1 | 0 | BeFree |
| Stricture of anus | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of liver | 0.000271442 | 1 | 0 | BeFree |
| Secondary malignant neoplasm of liver | 0.000271442 | 1 | 0 | BeFree |
| Carcinogenesis | 0.000271442 | 1 | 0 | BeFree |
| Carcinoma of lung | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of gastrointestinal tract | 0.000271442 | 1 | 0 | BeFree |
| Colon Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| precancerous lesions | 0.000271442 | 1 | 0 | BeFree |
| Adenoma of large intestine | 0.000271442 | 1 | 0 | BeFree |
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