Recombinant Human Homeobox protein aristaless-like 4 (ALX4)

Uniprot Id

Q9H161

Target Species

Human

Target Name

ALX4

Target Full Name

Homeobox protein aristaless-like 4

Target Function

Transcription factor involved in skull and limb development. Plays an essential role in craniofacial development, skin and hair follicle development.

Target Involvement

Parietal foramina 2 (PFM2); Frontonasal dysplasia 2 (FND2); Potocki-Shaffer syndrome (POSHS); Craniosynostosis 5 (CRS5)

Target Subcellular Location

Nucleus.

Target Protein Families

Paired homeobox family

Target Tissue Specificity

Expression is likely to be restricted to bone. Found in parietal bone.

Target Synonyms

Alx4; ALX4_HUMAN; Aristaless like homeobox 4; CRS5; FND2; FPP; homeobox protein aristaless like 4; Homeobox protein aristaless-like 4; homeodomain transcription factor ALX4; KIAA1788; PFM1; PFM2

Target Background

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, cognitive disability, multiple exostoses, and genital abnormalities in males. In mouse, this gene has been shown to use dual translation initiation sites located 16 codons apart.