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The official name of this gene is “ALX homeobox 3.”
ALX3 is the gene's official symbol. The ALX3 gene is also known by other names, listed below.
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]
Transcriptional regulator with a possible role in patterning of mesoderm during development.
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. The disease is caused by mutations affecting the gene represented in this entry.
|||136760 (http://omim.org/entry/136760)||FRONTONASAL DYSPLASIA 1|
|606014 (http://omim.org/entry/606014)||ARISTALESS-LIKE HOMEOBOX 3|
Cytogenetic Location: 1p13.3
Molecular Location on chromosome 1: base pairs 110,060,374 to 110,070,699
The ALX3 gene is located on the short (p) arm of chromosome 1 at position 13.3.
More precisely, the ALX3 gene is located from base pair 110,060,374 to base pair 110,070,699 on chromosome 1.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about ALX3 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
anterior ; bilateral ; cell ; differentiation ; DNA ; domain ; dysplasia ; gene ; homeobox ; hypertelorism ; mesoderm ; methylation ; ocular hypertelorism ; palate ; promoter ; protein ; stage ; unilateral
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.