ALX4

ALX homeobox 4
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 2M0C​
Identifiers
Symbols	ALX4 ; CRS5; FND2
External IDs	OMIM: 605420 MGI: 108359 HomoloGene: 7229 GeneCards: ALX4 Gene
Gene ontology Molecular function • RNA polymerase II regulatory region sequence-specific DNA binding • transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding • DNA binding • protein heterodimerization activity • HMG box domain binding Cellular component • nucleus • transcription factor complex Biological process • skeletal system development • hair follicle development • transcription from RNA polymerase II promoter • muscle organ development • post-embryonic development • anterior/posterior pattern specification • embryonic forelimb morphogenesis • embryonic hindlimb morphogenesis • embryonic digit morphogenesis • regulation of apoptotic process • positive regulation of transcription from RNA polymerase II promoter • digestive tract development • embryonic skeletal system morphogenesis • palate development Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	60529	11695
Ensembl	ENSG00000052850	ENSMUSG00000040310
UniProt	Q9H161	O35137
RefSeq (mRNA)	NM_021926	NM_007442
RefSeq (protein)	NP_068745	NP_031468
Location (UCSC)	Chr 11: 44.26 – 44.31 Mb	Chr 2: 93.64 – 93.68 Mb
PubMed search

Homeobox protein aristaless-like 4 is a protein that in humans is encoded by the ALX4 gene.^[1][2][3]

Interactions

ALX4 has been shown to interact with Lymphoid enhancer-binding factor 1.^[4]

References

1. Wu YQ, Badano JL, McCaskill C, Vogel H, Potocki L, Shaffer LG (Nov 2000). "Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome". Am J Hum Genet 67 (5): 1327–32. doi:10.1016/S0002-9297(07)62963-2. PMC 1288575. PMID 11017806.
2. Bartsch O, Wuyts W, Van Hul W, Hecht JT, Meinecke P, Hogue D, Werner W, Zabel B, Hinkel GK, Powell CM, Shaffer LG, Willems PJ (Jul 1996). "Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11". Am J Hum Genet 58 (4): 734–42. PMC 1914683. PMID 8644736.
3. "Entrez Gene: ALX4 aristaless-like homeobox 4".
4. Boras, Kata; Hamel Paul A (Jan 2002). "Alx4 binding to LEF-1 regulates N-CAM promoter activity". J. Biol. Chem. (United States) 277 (2): 1120–7. doi:10.1074/jbc.M109912200. ISSN 0021-9258. PMID 11696550.

Further reading

• Qu S, Tucker SC, Zhao Q; et al. (1999). "Physical and genetic interactions between Alx4 and Cart1.". Development 126 (2): 359–69. PMID 9847249.
• Wuyts W, Cleiren E, Homfray T; et al. (2001). "The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500).". J. Med. Genet. 37 (12): 916–20. doi:10.1136/jmg.37.12.916. PMC 1734509. PMID 11106354.
• Mavrogiannis LA, Antonopoulou I, Baxová A; et al. (2001). "Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects.". Nat. Genet. 27 (1): 17–8. doi:10.1038/83703. PMID 11137991.
• Nagase T, Nakayama M, Nakajima D; et al. (2001). "Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.". DNA Res. 8 (2): 85–95. doi:10.1093/dnares/8.2.85. PMID 11347906.
• Boras K, Hamel PA (2002). "Alx4 binding to LEF-1 regulates N-CAM promoter activity.". J. Biol. Chem. 277 (2): 1120–7. doi:10.1074/jbc.M109912200. PMID 11696550.
• Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Wakui K, Gregato G, Ballif BC; et al. (2005). "Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome.". Eur. J. Hum. Genet. 13 (5): 528–40. doi:10.1038/sj.ejhg.5201366. PMID 15852040.
• Mavrogiannis LA, Taylor IB, Davies SJ; et al. (2006). "Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.". Eur. J. Hum. Genet. 14 (2): 151–8. doi:10.1038/sj.ejhg.5201526. PMC 1477589. PMID 16319823.

External links

• GeneReviews/NCBI/NIH/UW entry on Enlarged Parietal Foramina/Cranium Bifidum