ALX4

Homeobox protein aristaless-like 4 is a protein that in humans is encoded by the ALX4 gene.[5][6][7] Alx4 belongs to the group-1 aristaless-related genes, a majority of which are linked to the development of the craniofacial and/or appendicular skeleton, along with PRRX1, SHOX, ALX3, and CART1.[8] The Alx4 protein acts as a transcriptional activator and is predominantly expressed in the mesenchyme of the developing embryonic limb buds.[9][8][10] Transcripts of this gene are detectable in the lateral plate mesoderm just prior to limb induction. Alx4 expression plays a major role in the determination of spatial orientation of the growing limb bud by aiding in the establishment of anteroposterior polarity of the limb.[9][10][11] It does this by working in conjunction with Gli3 and dHand to restrict the expression of Sonic Hedgehog (SHh) to the posterior mesenchyme, which will eventually give rise to the Zone of Polarizing Activity (ZPA).[12] This gene has been proven to be allelic with mutations and deletions giving rise to a host of craniofacial dismorphologies and several forms of polydactyly in mammalian development.[8][13] A mouse-model knockout of this gene, dubbed Strong's luxoid, was originally created by Forstheofel in the 1960s and has been extensively studied to understand the partial and complete loss-of-function properties of this gene.[8][9][11][12][13][14]

ALX4
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2M0C
Identifiers
Aliases	ALX4, CRS5, FND2, ALX homeobox 4
External IDs	OMIM: 605420 MGI: 108359 HomoloGene: 7229 GeneCards: ALX4
Gene location (Human) Chr. Chromosome 11 (human)[1] Band 11p11.2 Start 44,260,440 bp[1] End 44,310,139 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2 E1|2 51.62 cM Start 93,642,384 bp[2] End 93,681,339 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • DNA binding • sequence-specific DNA binding • RNA polymerase II regulatory region sequence-specific DNA binding • GO:0001131, GO:0001151, GO:0001130, GO:0001204 DNA-binding transcription factor activity • GO:0001077, GO:0001212, GO:0001213, GO:0001211, GO:0001205 DNA-binding transcription activator activity, RNA polymerase II-specific • HMG box domain binding • protein heterodimerization activity • GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component • transcription regulator complex • cell nucleus Biological process • regulation of apoptotic process • hair follicle development • embryonic skeletal system morphogenesis • pattern specification process • skeletal system development • palate development • regulation of transcription, DNA-templated • limb morphogenesis • regulation of transcription from RNA polymerase II promoter • skeletal system morphogenesis • muscle organ development • embryonic digit morphogenesis • transcription from RNA polymerase II promoter • post-embryonic development • transcription, DNA-templated • multicellular organism development • digestive tract development • embryonic forelimb morphogenesis • anterior/posterior pattern specification • positive regulation of transcription from RNA polymerase II promoter • embryonic hindlimb morphogenesis Sources:Amigo / QuickGO
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	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse