DLX3 gene

distal-less homeobox 3

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

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

From NCBI Gene:

  • Tricho-dento-osseous syndrome
  • Amelogenesis imperfecta, type IV

From UniProt:

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. [MIM:190320]

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. [MIM:104510]

Cytogenetic Location: 17q21.33, which is the long (q) arm of chromosome 17 at position 21.33

Molecular Location: base pairs 49,990,005 to 49,995,224 on chromosome 17 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 17q21.33, which is the long (q) arm of chromosome 17 at position 21.33
  • AI4
  • TDO