ALX3

ALX3
Identifiers
Aliases	ALX3, FND, FND1, ALX homeobox 3
External IDs	MGI: 1277097 HomoloGene: 4737 GeneCards: ALX3
Gene location (Human)
Chr.	Chromosome 1 (human)[1]
End	110,070,700 bp[1]
Gene location (Mouse)
Chr.	Chromosome 3 (mouse)[2]
End	107,605,776 bp[2]
Gene ontology
Molecular function	• sequence-specific DNA binding; • DNA binding; • RNA polymerase II transcription factor activity, sequence-specific DNA binding;
Cellular component	• cell nucleus;
Biological process	• regulation of apoptotic process; • pattern specification process; • embryonic skeletal system morphogenesis; • multicellular organism development; • regulation of transcription, DNA-templated; • embryonic forelimb morphogenesis; • transcription, DNA-templated; • embryonic hindlimb morphogenesis; • embryonic cranial skeleton morphogenesis; • regulation of transcription from RNA polymerase II promoter;
	Sources:Amigo / QuickGO
Orthologs
	257
	11694
	ENSG00000156150
	ENSMUSG00000014603
	O95076
	O70137
	NM_006492
	NM_007441
	NP_006483
	NP_031467
	Wikidata
View/Edit Human	View/Edit Mouse

The ALX3 gene, also known as aristaless-like homeobox 3, is a protein coding gene that provides instructions to build a protein which is a member of the homeobox protein family.^[5] This grouping regulates patterns of anatomical development. The gene encodes a nuclear protein that functions as a transcription regulator involved in cell-type differentiation and development.

The ALX3 protein, encoded by the gene, is a transcription factor, meaning that it binds to DNA and obtains control over the action of other genes. The ALX3 protein specifically controls genes that regulate cell growth, proliferation, and migration. This protein is essential for the development of the head and face, specifically the nose. This event begins around the fourth week of development.

At least 7 mutations in the ALX3 gene are known to cause frontonasal dysplasia. The mutations eliminate the function of the ALX3 protein, resulting in decreased ability to bind to DNA. The loss of regulatory function results in uncontrolled cell proliferation and migration during fetal development. One particular form of the disorder, called frontonasal dysplasia type 1, presents with abnormal development of structures in the middle of the face. The most common malformation of this defect is a cleft in the nose, lip, and palate.^[6]

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000156150 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000014603 - Ensembl, May 2017
↑ "Human PubMed Reference:".
↑ "Mouse PubMed Reference:".
↑ "ALX3 ALX homeobox 3". Retrieved 14 April 2015.
↑ "ALX3". The Human Protein Atlas. Retrieved 10 May 2015.

McGonnell IM, Graham A, Richardson J, Fish JL, Depew MJ, Dee CT, Holland PW, Takahashi T (2011). "Evolution of the Alx homeobox gene family: parallel retention and independent loss of the vertebrate Alx3 gene". Evolution & Development. 13 (4): 343–51. doi:10.1111/j.1525-142X.2011.00489.x. PMC 3166657. PMID 21740507.
Twigg SR, Versnel SL, Nürnberg G, Lees MM, Bhat M, Hammond P, Hennekam RC, Hoogeboom AJ, Hurst JA, Johnson D, Robinson AA, Scambler PJ, Gerrelli D, Nürnberg P, Mathijssen IM, Wilkie AO (2009). "Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene". American Journal of Human Genetics. 84 (5): 698–705. doi:10.1016/j.ajhg.2009.04.009. PMC 2681074. PMID 19409524.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000156150 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000014603 - Ensembl, May 2017

[3] "Human PubMed Reference:".

[4] "Mouse PubMed Reference:".

[5] "ALX3 ALX homeobox 3". Retrieved 14 April 2015.

[6] "ALX3". The Human Protein Atlas. Retrieved 10 May 2015.

ALX3

References

Further reading