|Homo sapiens Gene: ALX4|
|Last Modified||2014-10-13 [Report errors or provide feedback]|
|Gene Name||ALX homeobox 4|
ALX homeobox 4
|Useful resources||Stemformatics EHFPI ImmGen|
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]
|Genomic Location||Chromosome 11:44260444-44310166|
|Number of Interactions||
This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
They are also associated with 32 interaction(s) predicted by orthology.
|UniProt Splice Variant|
|EMBL||AB058691 AF294629 AF308822 AF308823 AF308824 AF308825 AJ279074 AJ279075 AJ279076 AJ279077 AJ404888|
|GenPept||AAG23961 AAK38835 BAB47417 CAC15060 CAC15120|
|RNA Seq Atlas||60529|