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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. Note: This description may include information from UniProtKB.
Protein type: DNA-binding; Transcription, coactivator/corepressor
Chromosomal Location of Human Ortholog: 1p13.3
Disease: Frontonasal Dysplasia 1
Reference #:  O95076 (UniProtKB)
Alt. Names/Synonyms: ALX homeobox 3; ALX3; aristaless-like homeobox 3; Homeobox protein aristaless-like 3; MGC138212; MGC141988; Proline-rich transcription factor ALX3
Gene Symbols: ALX3
Molecular weight: 36,935 Da
Basal Isoelectric point: 8.81  Predict pI for various phosphorylation states
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Protein Structure Not Found.

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