Bioinformatics Database
DLX3: distal-less homeobox 3
Cellular Process
Enamel and Dentin formation
Gene Name
DLX3: distal-less homeobox 3
Gene ID
1747
Gene Sequence
General Description
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.
Alternative titles; symbols
Chromosome
Chromosome 17
Cytogenetic location
17q21.33
Encoded Protein
Homeobox protein DLX-3
Function of the protein in oral and tooth development
Pang et al., (2020) used dlx3b mutant zebrafish for this study, where dlx3b-/- group as compared with the dlx3b+/+ group. Scanning electron microscopy study showed morphological surface changes in pharyngeal teeth enameloid, with a decrease in the mineral content detected by energy dispersive spectrometer. Specific secretory calcium-binding phosphoprotein genes were significantly downregulated in dlx3b mutants (Pang et al., 2020)
Dental and Oral Diseases
Amelogenesis imperfecta, type IV
Trichodontoosseous syndrome
(OMIM ID: 600525)
Tricho-dento-osseous (TDO) syndrome is an autosomal dominant disorder characterized by anomalies in hair, teeth and bone.
Protein Sequence
>NP_005211.1 homeobox protein DLX-3 [Homo sapiens]
MSGSFDRKLSSILTDISSSLSCHAGSKDSPTLPESSVTDLGYYSAPQHDYYSGQPYGQTVNPYTYHHQFN
LNGLAGTGAYSPKSEYTYGASYRQYGAYREQPLPAQDPVSVKEEPEAEVRMVNGKPKKVRKPRTIYSSYQ
LAALQRRFQKAQYLALPERAELAAQLGLTQTQVKIWFQNRRSKFKKLYKNGEVPLEHSPNNSDSMACNSP
PSPALWDTSSHSTPAPARSQLPPPLPYSASPSYLDDPTNSWYHAQNLSGPHLQQQPPQPATLHHASPGPP
PNPGAVY
Mutations
2-BP DEL, 560CT: In an autosomal dominant pedigree pattern, Dong et al. (2005) identified a 2-bp deletion in the DLX3 gene, 560delCT, resulting in a frameshift that altered the last 2 amino acids of the DNA-binding homeodomain and introduced a premature stop codon that truncated the protein by 88 amino acids.
Related Literature
Pang et al., (2020): https://doi.org/10.7717/peerj.8515
Dong et al., (2005): https://doi.org/10.1002/ajmg.a.30521
