Aliases for ALX1 Gene
External Ids for ALX1 Gene
Previous HGNC Symbols for ALX1 Gene
Previous GeneCards Identifiers for ALX1 Gene
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]
GeneCards Summary for ALX1 Gene
ALX1 (ALX Homeobox 1) is a Protein Coding gene. Diseases associated with ALX1 include frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome and frontonasal dysplasia 3. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and protein heterodimerization activity. An important paralog of this gene is PHOX2B.
UniProtKB/Swiss-Prot for ALX1 Gene
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).