ALX4 Antibody

Background:

This gene encodes a paired-like homeodomain transcriptionfactor expressed in the mesenchyme of developing bones, limbs,hair, teeth, and mammary tissue. Mutations in this gene causeparietal foramina 2 (PFM2); an autosomal dominant diseasecharacterized by deficient ossification of the parietal bones.Mutations in this gene also cause a form of frontonasal dysplasiawith alopecia and hypogonadism; suggesting a role for this gene incraniofacial development, mesenchymal-epithelial communication, andhair follicle development. Deletion of a segment of chromosome 11containing this gene, del(11)(p11p12), causes Potocki-Shaffersyndrome (PSS); a syndrome characterized by craniofacial anomalies,mental retardation, multiple exostoses, and genital abnormalitiesin males. In mouse, this gene has been shown to use dualtranslation initiation sites located 16 codons apart. [provided byRefSeq].