ALX homeobox 4


ALX4 (may also be known as: None)




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]


alx4b Danio rerio
Alx4 Mus musculus
Alx4 Rattus norvegicus

Links to external resources

Changes associated with this gene

GO Terms

GO IDGO TermGO Category
GO:0001501 skeletal system development biological_process
GO:0001942 hair follicle development biological_process
GO:0007389 pattern specification process biological_process
GO:0007517 muscle organ development biological_process
GO:0009791 post-embryonic development biological_process
GO:0009952 anterior/posterior pattern specification biological_process
GO:0035108 limb morphogenesis biological_process
GO:0035115 embryonic forelimb morphogenesis biological_process
GO:0035116 embryonic hindlimb morphogenesis biological_process
GO:0042733 embryonic digit morphogenesis biological_process
GO:0042981 regulation of apoptotic process biological_process
GO:0045944 positive regulation of transcription from RNA polymerase II promoter biological_process
GO:0048565 digestive tract development biological_process
GO:0048704 embryonic skeletal system morphogenesis biological_process
GO:0060021 palate development biological_process
GO:0005634 nucleus cellular_component
GO:0005667 transcription factor complex cellular_component
GO:0003677 DNA binding molecular_function
GO:0003700 sequence-specific DNA binding transcription factor activity molecular_function
GO:0043565 sequence-specific DNA binding molecular_function
GO:0046982 protein heterodimerization activity molecular_function
GO:0071837 HMG box domain binding molecular_function