ALX4

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, cognitive disability, 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]

ALX Homeobox 4

Transcription factor involved in skull and limb development. Plays an essential role in craniofacial development, skin and hair follicle development.

Anterior/posterior pattern specification Source: Ensembl
Digestive tract development Source: Ensembl
Embryonic digit morphogenesis Source: Ensembl
Embryonic forelimb morphogenesis Source: Ensembl
Embryonic hindlimb morphogenesis Source: Ensembl
Embryonic skeletal system morphogenesis Source: Ensembl
Hair follicle development Source: UniProtKB
Muscle organ development Source: Ensembl
Post-embryonic development Source: Ensembl
Regulation of apoptotic process Source: Ensembl
Regulation of transcription by RNA polymerase II Source: GO_Central
Roof of mouth development Source: Ensembl
Skeletal system development Source: UniProtKB

Nucleus

Parietal foramina 2 (PFM2): Autosomal dominant disease characterized by oval defects of the parietal bones caused by deficient ossification around the parietal notch, which is normally obliterated during the fifth fetal month. PFM2 is also a clinical feature of Potocki-Shaffer syndrome.
Frontonasal dysplasia 2 (FND2): The term frontonasal dysplasia describes an array of abnormalities affecting the eyes, forehead and nose and linked to midfacial dysraphia. The clinical picture is highly variable. Major findings include true ocular hypertelorism; broadening of the nasal root; median facial cleft affecting the nose and/or upper lip and palate; unilateral or bilateral clefting of the alae nasi; lack of formation of the nasal tip; anterior cranium bifidum occultum; a V-shaped or widow's peak frontal hairline.
Potocki-Shaffer syndrome (POSHS): A syndrome characterized by foramina parietalia permagna, multiple exostoses, and craniofacial dysostosis and mental retardation in some cases.
Craniosynostosis 5 (CRS5): A primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability.