| Gene Symbol | NIPBL |
| Full Name | Nipped-B Like (Cohesin Loader) |
| Aliases | Cohesin Loader |
| Function | NIPBL (Nipped-B Like) is the primary cohesin loading factor, essential for the deposition of the cohesin complex onto chromatin |
| Pathways | NOTCH, WNT, wnt |
| Ensembl ID | ENSG00000104249 |
| GeneCards | NIPBL |
| Human Protein Atlas | NIPBL |
| Enhancer-promoter contacts | Facilitating long-range chromatin loops that enable distal regulatory elements to activate target genes |
| TAD boundary formation | Establishing topologically associating domains that insulate gene regulatory neighborhoods |
| Transcriptional activation | Directly interacting with transcriptional machinery[@kagey2010] |
| Hox genes | Regulating body patterning and brain regionalization |
| Signaling pathway components | NOTCH, WNT, SHH targets[@dorsett2012] |
| Craniofacial features | Synophrys (unibrow), long eyelashes, short nose, thin downturned lips |
| Growth retardation | Prenatal and postnatal growth deficiency |
| Associated Diseases | Als |
| KG Connections | 7 knowledge graph edges |
| Databases | GeneCardsUniProtNCBI GeneHPASTRING |
No AI portrait yet
No comments yet. Be the first to comment!
No comments yet. Be the first to comment!