NP_006483
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Related Accession #
NCBI Official Full Name
homeobox protein aristaless-like 3
NCBI Official Synonym Full Names
ALX homeobox 3
NCBI Official Synonym Symbols
NCBI Protein Information
homeobox protein aristaless-like 3
UniProt Protein Name
Homeobox protein aristaless-like 3
UniProt Synonym Protein Names
Proline-rich transcription factor ALX3
UniProt Entry Name
ALX3_HUMAN
NCBI Summary for 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]
UniProt Comments for ALX3
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: regulation of apoptosis; embryonic forelimb morphogenesis; transcription, DNA-dependent; regulation of transcription, DNA-dependent; embryonic hindlimb morphogenesis; pattern specification process; embryonic skeletal morphogenesis
Disease: Frontonasal Dysplasia 1
Research Articles on ALX3
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Diseases associated with anti-ALX3 antibody
Organs/Tissues associated with anti-ALX3 antibody
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