Aristaless Like Homeobox Protein 4 (ALX4)

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FPP; PFM; PFM1; PFM2; Parietal Foramina 2

Aristaless Like Homeobox Protein 4 (ALX4)
ALX4 encodes a paired-like homeodomain transcription factor expressed in the mesenchyme of developing bones, limbs, hair, teeth, and mammary tissue. Mutations in this gene cause parietal foramina 2 (PFM2); an autosomal dominant disease characterized by deficient ossification of the parietal bones. Mutations in this gene also cause a form of frontonasal dysplasia with alopecia and hypogonadism; suggesting a role for this gene in craniofacial development, mesenchymal-epithelial communication, and hair follicle development. Deletion of a segment of chromosome 11 containing this gene, del(11)(p11p12), causes Potocki-Shaffer syndrome (PSS); a syndrome characterized by craniofacial anomalies, mental retardation, multiple exostoses, and genital abnormalities in males.

Organism species: Homo sapiens (Human)

CATALOG NO.PRODUCT NAMEAPPLICATIONS
Proteinsn/aRecombinant Aristaless Like Homeobox Protein 4 (ALX4)Recombinant Protein Customized Service Offer
Antibodiesn/aMonoclonal Antibody to Aristaless Like Homeobox Protein 4 (ALX4)Monoclonal Antibody Customized Service Offer
n/aPolyclonal Antibody to Aristaless Like Homeobox Protein 4 (ALX4)Polyclonal Antibody Customized Service Offer
Assay Kitsn/aCLIA Kit for Aristaless Like Homeobox Protein 4 (ALX4)CLIA Kit Customized Service Offer
n/aELISA Kit for Aristaless Like Homeobox Protein 4 (ALX4)ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO.PRODUCT NAMEAPPLICATIONS
Proteinsn/aRecombinant Aristaless Like Homeobox Protein 4 (ALX4)Recombinant Protein Customized Service Offer
Antibodiesn/aMonoclonal Antibody to Aristaless Like Homeobox Protein 4 (ALX4)Monoclonal Antibody Customized Service Offer
n/aPolyclonal Antibody to Aristaless Like Homeobox Protein 4 (ALX4)Polyclonal Antibody Customized Service Offer
Assay Kitsn/aCLIA Kit for Aristaless Like Homeobox Protein 4 (ALX4)CLIA Kit Customized Service Offer
n/aELISA Kit for Aristaless Like Homeobox Protein 4 (ALX4)ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO.PRODUCT NAMEAPPLICATIONS
Proteinsn/aRecombinant Aristaless Like Homeobox Protein 4 (ALX4)Recombinant Protein Customized Service Offer
Antibodiesn/aMonoclonal Antibody to Aristaless Like Homeobox Protein 4 (ALX4)Monoclonal Antibody Customized Service Offer
n/aPolyclonal Antibody to Aristaless Like Homeobox Protein 4 (ALX4)Polyclonal Antibody Customized Service Offer
Assay Kitsn/aCLIA Kit for Aristaless Like Homeobox Protein 4 (ALX4)CLIA Kit Customized Service Offer
n/aELISA Kit for Aristaless Like Homeobox Protein 4 (ALX4)ELISA Kit Customized Service Offer
  1. "Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome."Am. J. Hum. Genet. 67:1327-1332(2000) [PubMed] [Europe PMC] [Abstract]
  2. "The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500)."J. Med. Genet. 37:916-920(2000) [PubMed] [Europe PMC] [Abstract]
  3. "Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects."Nat. Genet. 27:17-18(2001) [PubMed] [Europe PMC] [Abstract]
  4. "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. 8:85-95(2001) [PubMed] [Europe PMC] [Abstract]
  5. "ALX4 dysfunction disrupts craniofacial and epidermal development."Hum. Mol. Genet. 18:4357-4366(2009) [PubMed] [Europe PMC] [Abstract]
  6. "ALX4 gain-of-function mutations in nonsyndromic craniosynostosis."Hum. Mutat. 33:1626-1629(2012) [PubMed] [Europe PMC] [Abstract]