ALX3

This gene encodes a nuclear protein with a homeobox DNA-binding domain that functions as a transcriptional regulator involved in cell-type differentiation and development. Preferential methylation of this gene's promoter is associated with advanced-stage neuroblastoma tumors. [provided by RefSeq, Jul 2008]

Full Name

ALX Homeobox 3

Function

Transcriptional regulator with a possible role in patterning of mesoderm during development.

Biological Process

Embryonic cranial skeleton morphogenesis Source: InterPro
Embryonic forelimb morphogenesis Source: Ensembl
Embryonic hindlimb morphogenesis Source: Ensembl
Pattern specification process Source: Ensembl
Regulation of apoptotic process Source: Ensembl
Regulation of transcription by RNA polymerase II Source: GO_Central

Cellular Location

Nucleus

Involvement in disease

Frontonasal dysplasia 1 (FND1): 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.