NKX3-2
Gene name: NK3 homeobox 2OMIM ID: 602183
Chromosome location: 4p15.33
Mutations
| Disease/Phenotype | Spondylo-megaepiphyseal-metaphyseal dysplasia |
|---|---|
| Reference transcript | NM_001189.3 |
| DNA Change | c.104_110delCGCCCGG |
| A.A. Change | Frameshift and premature protein truncation |
| Exon/Intron | exon 1 |
| Mutation Type | deletion |
| Reference | Hellemans J, Simon M, Dheedene A, Alanay Y, Mihci E, Rifai L, Sefiani A, van Bever Y, Meradji M, Superti-Furga A, Mortier G.Homozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasia. Am J Hum Genet. 2009 Dec;85(6):916-22. |