ALX4 Antibody (Center) Blocking peptide
Synthetic peptide
- SPECIFICATION
- CITATIONS
- PROTOCOLS
- BACKGROUND
Primary Accession | Q9H161 |
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Other Accession | NP_068745.2 |
Clone Names | 90723012 |
Gene ID | 60529 |
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Other Names | Homeobox protein aristaless-like 4, ALX4, KIAA1788 |
Format | Peptides are lyophilized in a solid powder format. Peptides can be reconstituted in solution using the appropriate buffer as needed. |
Storage | Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C. |
Precautions | This product is for research use only. Not for use in diagnostic or therapeutic procedures. |
Name | ALX4 |
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Synonyms | KIAA1788 |
Function | Transcription factor involved in skull and limb development. Plays an essential role in craniofacial development, skin and hair follicle development. |
Cellular Location | Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108, ECO:0000255|PROSITE-ProRule:PRU00138, ECO:0000269|PubMed:19692347} |
Tissue Location | Expression is likely to be restricted to bone. Found in parietal bone |
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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].
References
Jugessur, A., et al. PLoS ONE 5 (7), E11493 (2010) :Tanzer, M., et al. PLoS ONE 5 (2), E9061 (2010) :Kayserili, H., et al. Hum. Mol. Genet. 18(22):4357-4366(2009)Chang, H., et al. J. Clin. Pathol. 62(10):908-914(2009)Drenos, F., et al. Hum. Mol. Genet. 18(12):2305-2316(2009)
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