Western blotting: 1:500-1:1000
NCBI and Uniprot Product Information
NCBI Description
This gene 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. In mouse, this gene has been shown to use dual translation initiation sites located 16 codons apart. [provided by RefSeq, Oct 2009]
Uniprot Description
ALX4: Transcription factor involved in skull and limb development. Plays an essential role in craniofacial development, skin and hair follicle development. Defects in ALX4 are the cause of parietal foramina 2 (PFM2); also known as foramina parietalia permagna (FPP). PFM2 is an autosomal dominant disease characterized by oval defects of the parietal bones caused by deficient ossification around the parietal notch, which is normally obliterated during the fifth fetal month. PFM2 is also a clinical feature of Potocki- Shaffer syndrome. Defects in ALX4 are the cause of frontonasal dysplasia type 2 (FND2). The term frontonasal dysplasia describes an array of abnormalities affecting the eyes, forehead and nose and linked to midfacial dysraphia. The clinical picture is highly variable. Major findings include true ocular hypertelorism; broadening of the nasal root; median facial cleft affecting the nose and/or upper lip and palate; unilateral or bilateral clefting of the alae nasi; lack of formation of the nasal tip; anterior cranium bifidum occultum; a V-shaped or widow's peak frontal hairline. Defects in ALX4 are a cause of Potocki-Shaffer syndrome (POSHS). A contiguous gene syndrome caused by deletion of the 11p11.2 region. Belongs to the paired homeobox family.
Protein type: DNA-binding
Chromosomal Location of Human Ortholog: 11p11.2
Cellular Component: nucleus; transcription factor complex
Molecular Function: DNA binding; protein heterodimerization activity
Biological Process: anterior/posterior pattern formation; embryonic digit morphogenesis; embryonic forelimb morphogenesis; embryonic hindlimb morphogenesis; embryonic skeletal morphogenesis; gut development; hair follicle development; muscle development; palate development; positive regulation of transcription from RNA polymerase II promoter; post-embryonic development; regulation of apoptosis; skeletal development; transcription from RNA polymerase II promoter
Disease: Craniosynostosis 5, Susceptibility To; Frontonasal Dysplasia 2; Parietal Foramina 2
Research Articles on ALX4
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Product Notes
The ALX4 alx4 (Catalog #AAA9403442) is an Antibody produced from Rabbit and is intended for research purposes only. The product is available for immediate purchase. The ALX4 Antibody reacts with Human and may cross-react with other species as described in the data sheet. AAA Biotech's ALX4 can be used in a range of immunoassay formats including, but not limited to, ELISA (EIA), Western Blot (WB). ELISA: 1:1000-1:5000 Western blotting: 1:500-1:1000. Researchers should empirically determine the suitability of the ALX4 alx4 for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process. It is sometimes possible for the material contained within the vial of "ALX4, Polyclonal Antibody" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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