The ALX3 gene (ALX3 stands for: ALX Homeobox 3) is a protein-coding gene located on chromosome 1p13.3. Associated signaling pathways include MITF-M-dependent gene expression and nervous system development. An important paralog of this gene is ALX4.
ALX3 gene
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The ALX3 gene encodes a nuclear protein with a DNA-binding homeobox domain that acts as a transcriptional regulator and is involved in the differentiation and development of mesoderm cell types.
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During craniofacial development, different populations of cartilage- and bone-forming cells develop at specific sites in the head. Most of these cells are derived from pluripotent neural crest cells of the skull and differentiate with different developmental timings and cellular morphologies. Genetic mutant analyses suggest that ALX3 regulates the different differentiation timing and cellular morphologies between frontonasal neural crest cell subpopulations (Mitchell JM et al. 2021).
Methylation of the promoter of this gene is associated with advanced-stage neuroblastomas.
Diseases associated with ALX3 include frontonasal dysplasia 1(frontorhinia) and Crouzon syndrome.
LiteratureThis section has been translated automatically.
- Kwon RY et al. (2019) Using zebrafish to study skeletal genomics. Bone 126:37-50.
- Mitchell JM et al. (2021) The alx3 gene shapes the zebrafish neurocranium by regulating frontonasal neural crest cell differentiation timing. Development 148:dev197483.
- Twigg SR et al. (2009) Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene. Am J Hum Genet 84:698-705.
- Ullah A et al. (2018) Exome sequencing revealed a novel nonsense variant in ALX3 gene underlying frontorhiny. J Hum Genet 63:97-100.