| Tbio | ALX homeobox protein 1 |
Sequence-specific DNA-binding transcription factor that binds palindromic sequences within promoters and may activate or repress the transcription of a subset of genes (PubMed:9753625, PubMed:8756334). Most probably regulates the expression of genes involved in the development of mesenchyme-derived craniofacial structures. Early on in development, it plays a role in forebrain mesenchyme survival (PubMed:20451171). May also induce epithelial to mesenchymal transition (EMT) through the expression of SNAI1 (PubMed:23288509).
The specific function of this gene has yet to be determined in humans; however, in rodents, it is necessary for survival of the forebrain mesenchyme and may also be involved in development of the cervix. Mutations in the mouse gene lead to neural tube defects such as acrania and meroanencephaly. [provided by RefSeq, Jul 2008]
The specific function of this gene has yet to be determined in humans; however, in rodents, it is necessary for survival of the forebrain mesenchyme and may also be involved in development of the cervix. Mutations in the mouse gene lead to neural tube defects such as acrania and meroanencephaly. [provided by RefSeq, Jul 2008]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Craniofacial Abnormalities | 151 | 0.0 | 0.0 |
| Frontonasal dysplasia | 6 | 0.0 | 0.0 |
| Disease | Target Count | P-value |
|---|---|---|
| cystic fibrosis | 1696 | 6.5e-07 |
| posterior fossa group A ependymoma | 468 | 2.7e-05 |
| group 3 medulloblastoma | 4104 | 3.3e-05 |
| cutaneous lupus erythematosus | 1057 | 9.8e-03 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Craniofrontonasal syndrome | 13 | 3.472 | 1.7 |
| neural tube defect | 9 | 3.271 | 1.6 |
| Disease | Target Count |
|---|---|
| Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome | 1 |
| Disease | log2 FC | p |
|---|---|---|
| cutaneous lupus erythematosus | -1.100 | 9.8e-03 |
| cystic fibrosis | 2.613 | 6.5e-07 |
| group 3 medulloblastoma | 1.600 | 3.3e-05 |
| posterior fossa group A ependymoma | 1.200 | 2.7e-05 |
MEFLSEKFALKSPPSKNSDFYMGAGGPLEHVMETLDNESFYSKASAGKCVQAFGPLPRAEHHVRLERTSP 1 - 70 CQDSSVNYGITKVEGQPLHTELNRAMDNCNSLRMSPVKGMQEKGELDELGDKCDSNVSSSKKRRHRTTFT 71 - 140 SLQLEELEKVFQKTHYPDVYVREQLALRTELTEARVQVWFQNRRAKWRKRERYGQIQQAKSHFAATYDIS 141 - 210 VLPRTDSYPQIQNNLWAGNASGGSVVTSCMLPRDTSSCMTPYSHSPRTDSSYTGFSNHQNQFSHVPLNNF 211 - 280 FTDSLLTGATNGHAFETKPEFERRSSSIAVLRMKAKEHTANISWAM 281 - 326 //
