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Homeobox protein DLX-3

Function

Transcriptional activator (By similarity). Activates transcription of GNRHR, via binding to the downstream activin regulatory element (DARE) in the gene promoter (By similarity).

Involvement in disease

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.

None

The disease is caused by variants affecting the gene represented in this entry.

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.

None

The disease is caused by variants affecting the gene represented in this entry.

Sequence Similarities

Belongs to the distal-less homeobox family.

Cellular localization

Alternative names

Homeobox protein DLX-3, DLX3

swissprot:O60479 entrezGene:1747 omim:600525