DLX3

Many vertebrate homeo box-containing genes have been identified on the basis of their sequence similarity with Drosophila developmental genes. Members of the Dlx gene family contain a homeobox that is related to that of Distal-less (Dll), a gene expressed in the head and limbs of the developing fruit fly. The Distal-less (Dlx) family of genes comprises at least 6 different members, DLX1-DLX6. Trichodentoosseous syndrome (TDO), an autosomal dominant condition, has been correlated with DLX3 gene mutation. This gene is located in a tail-to-tail configuration with another member of the gene family on the long arm of chromosome 17. Mutations in this gene have been associated with the autosomal dominant conditions trichodentoosseous syndrome and amelogenesis imperfecta with taurodontism. [provided by RefSeq, Jul 2008]

Distal-Less Homeobox 3

Likely to play a regulatory role in the development of the ventral forebrain. May play a role in craniofacial patterning and morphogenesis.

Blood vessel development Source: Ensembl
Cell differentiation Source: GO_Central
Epithelial cell differentiation Source: GO_Central
Odontoblast differentiation Source: Ensembl
Odontogenesis of dentin-containing tooth Source: Ensembl
Placenta development Source: Ensembl
Regulation of transcription by RNA polymerase II Source: GO_Central

Nucleus

Trichodentoosseous syndrome (TDO):
An autosomal dominant disease characterized by curly kinky hair at birth, enamel hypoplasia, taurodontism, thickening of cortical bones and variable expression of craniofacial morphology.
Amelogenesis imperfecta 4 (AI4):
An autosomal dominant defect of enamel formation associated with enlarged pulp chambers. Enamel is thin, teeth are small and widely spaced.