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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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: aristaless-like homeobox 4; Homeobox protein aristaless-like 4; homeodomain transcription factor ALX4
基因别名: ALX4; CRS5; FND2; KIAA1788
UniProt ID: (Human) Q9H161
Entrez Gene ID: (Human) 60529