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 93,472,729 bp[2] End 93,511,684 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in tendon Achilles tendon ganglionic eminence skin of abdomen skeletal muscle tissue prefrontal cortex gastrocnemius muscle minor salivary gland smooth muscle tissue renal cortex Top expressed in medial nasal prominence urethra male urethra lateral nasal prominence lip human mandible tongue extraocular muscle triceps brachii muscle meninges More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA binding sequence-specific DNA binding RNA polymerase II transcription regulatory region sequence-specific DNA binding DNA-binding transcription factor activity DNA-binding transcription activator activity, RNA polymerase II-specific HMG box domain binding protein heterodimerization activity DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component transcription regulator complex nucleus Biological process regulation of apoptotic process hair follicle development embryonic skeletal system morphogenesis pattern specification process skeletal system development roof of mouth development regulation of transcription, DNA-templated limb morphogenesis regulation of transcription by RNA polymerase II skeletal system morphogenesis muscle organ development embryonic digit morphogenesis transcription by RNA polymerase II post-embryonic development transcription, DNA-templated multicellular organism development digestive tract development embryonic forelimb morphogenesis anterior/posterior pattern specification positive regulation of transcription by RNA polymerase II 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: 93.47 – 93.51 Mb PubMed search [3] [4]
Wikidata
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