| ALX homeobox 4 | OKDB#: 4938 |
| Symbols: | ALX4 | Species: | human | ||
| Synonyms: | FND2,Tox, | Locus: | 11p11.2 in Homo sapiens |
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OMIM
Entrez Gene
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| General Comment | NCBI Summary: 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] | ||||
| General function | Nucleic acid binding, DNA binding, Transcription factor | ||||
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| Cellular localization | Nuclear | ||||
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| Follicle stages | Secondary | ||||
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| Mutations | 0 mutations | ||||
| Genomic Region | show genomic region | ||||
| Phenotypes and GWAS | show phenotypes and GWAS | ||||
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| created: | Oct. 25, 2013, 2:08 p.m. | by: |
hsueh email:
home page: |
| last update: | Oct. 25, 2013, 2:31 p.m. | by: | hsueh email: |
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