Structural highlights
Disease
[ALX4_HUMAN] Isolated scaphocephaly;Parietal foramina;Frontonasal dysplasia with alopecia and genital anomaly;Potocki-Shaffer syndrome. The disease is caused by mutations affecting the gene represented in this entry. The disease is caused by mutations affecting the gene represented in this entry. The disease is caused by mutations affecting the gene represented in this entry. Disease susceptibility is associated with variations affecting the gene represented in this entry.
Function
[ALX4_HUMAN] Transcription factor involved in skull and limb development. Plays an essential role in craniofacial development, skin and hair follicle development.[1]
References
- ↑ Kayserili H, Uz E, Niessen C, Vargel I, Alanay Y, Tuncbilek G, Yigit G, Uyguner O, Candan S, Okur H, Kaygin S, Balci S, Mavili E, Alikasifoglu M, Haase I, Wollnik B, Akarsu NA. ALX4 dysfunction disrupts craniofacial and epidermal development. Hum Mol Genet. 2009 Nov 15;18(22):4357-66. doi: 10.1093/hmg/ddp391. Epub 2009 Aug, 19. PMID:19692347 doi:http://dx.doi.org/10.1093/hmg/ddp391
