Aliases for ALX4 Gene
External Ids for ALX4 Gene
Previous HGNC Symbols for ALX4 Gene
Previous GeneCards Identifiers for ALX4 Gene
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]
GeneCards Summary for ALX4 Gene
ALX4 (ALX Homeobox 4) is a Protein Coding gene. Diseases associated with ALX4 include parietal foramina 2 and frontonasal dysplasia 2. 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 ALX4 Gene
Transcription factor involved in skull and limb development. Plays an essential role in craniofacial development, skin and hair follicle development.