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.
ALX4; ALX homeobox 4; aristaless like homeobox 4 , parietal foramina 2 , PFM2; homeobox protein aristaless-like 4; FPP; KIAA1788; PFM; Aristaless like homeobox 4; aristaless-like homeobox 4; FND2; homeobox protein aristaless like 4; homeodomain transcription factor ALX4; PFM1; PFM2; OTTHUMP00000233417