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 3 and frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and protein heterodimerization activity. An important paralog of this gene is PHOX2B.
UniProtKB/Swiss-Prot for ALX1 Gene
Transcriptional activator that acts at a palindromic recognition sequence to enhance the activity of the SV40 and TK promoters. Functions as a repressor with the prolactin promoter in vivo. May play a role in chondrocyte differentiation and may also influence cervix development.