ALX3 Antibody – Rabbit Polyclonal

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]

ALX3: Transcriptional regulator with a possible role in patterning of mesoderm during development. Defects in ALX3 are the cause of frontonasal dysplasia type 1 (FND1); also called frontonasal malformation (FNM) or frontorhiny. 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. Belongs to the paired homeobox family.

Protein type: DNA-binding; Transcription, coactivator/corepressor

Chromosomal Location of Human Ortholog: 1p13.3

Cellular Component: nucleus

Molecular Function: sequence-specific DNA binding

Biological Process: embryonic forelimb morphogenesis; embryonic hindlimb morphogenesis; embryonic skeletal morphogenesis; pattern specification process; regulation of apoptosis; regulation of transcription, DNA-dependent; transcription, DNA-dependent

Disease: Frontonasal Dysplasia 1