NP_068745
[Other Products]
NCBI GenBank Nucleotide #
|
[Other Products]
UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
44,241 Da
NCBI Official Full Name
homeobox protein aristaless-like 4
NCBI Official Synonym Full Names
ALX homeobox 4
NCBI Official Synonym Symbols
NCBI Protein Information
homeobox protein aristaless-like 4
UniProt Protein Name
Homeobox protein aristaless-like 4
UniProt Synonym Gene Names
UniProt Entry Name
ALX4_HUMAN
NCBI Summary for ALX4
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 Comments for ALX4
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
Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice. It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
Products associated with anti-ALX4 antibody
Diseases associated with anti-ALX4 antibody
Organs/Tissues associated with anti-ALX4 antibody
|