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]
Function:
Likely to play a regulatory role in the development of the ventral forebrain. May play a role in craniofacial patterning and morphogenesis.
Subcellular Location:
Nucleus.
DISEASE:
Defects in DLX3 are a cause of trichodentoosseous syndrome (TDO) [MIM:19064]. TDO is an autosomal dominant syndrome characterized by enamel hypoplasia and hypocalcification with associated strikingly curly hair.
Defects in DLX3 are the cause of amelogenesis imperfecta type 4 (AI4) [MIM:104510]; also known as amelogenesis imperfecta hypomaturation-hypoplastic type with taurodontism. AI4 is an autosomal dominant defect of enamel formation associated with enlarged pulp chambers.
Similarity:
Belongs to the distal-less homeobox family.
Contains 1 homeobox DNA-binding domain.
SWISS:
O60479
Gene ID:
1747
Database links:
Entrez Gene: 1747 Human
Entrez Gene: 13393 Mouse
Entrez Gene: 287638 Rat
Omim: 600525 Human
SwissProt: O60479 Human
SwissProt: Q64205 Mouse
Unigene: 134194 Human
Unigene: 5194 Mouse
Unigene: 10960 Rat
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