DLX3: Distal-Less Homeobox 3 Gene
Key regulator of craniofacial development, hair follicle differentiation, and placental function; associated with Tricho-Dento-Osseous syndrome and Amelogenesis Imperfecta.
Gene Information Card
| Symbol | DLX3 |
|---|---|
| Full Name | Distal-Less Homeobox 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q21.33 |
| NCBI Gene ID | 1747 ncbi.nlm.nih.gov/gene/1747 |
| Ensembl ID | ENSG00000164172 |
| UniProt ID | O60479 |
| OMIM ID | 600525 |
| HGNC ID | 2917 |
| Aliases | AIH3, TDO |
Description
DLX3 (Distal-Less Homeobox 3) is a homeobox transcription factor essential for embryonic development, particularly in craniofacial morphogenesis, hair follicle differentiation, tooth enamel formation, and placental development. It belongs to the DLX gene family, which is involved in patterning and organogenesis. Mutations in DLX3 cause Tricho-Dento-Osseous syndrome (TDO) and Amelogenesis Imperfecta (AIH3). The protein contains a homeodomain that binds DNA and regulates target gene expression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Tricho-Dento-Osseous syndrome (TDO) | Missense or frameshift mutations in DLX3 disrupt DNA binding or protein stability, leading to abnormal hair, enamel hypoplasia, and increased bone density. | OMIM #190320; ClinVar |
| Amelogenesis Imperfecta, type III (AIH3) | Specific DLX3 mutations impair enamel matrix protein expression, causing hypomaturation/hypoplastic enamel. | OMIM #130900; ClinVar |
| Hair abnormalities (curly hair, kinky hair) | DLX3 is required for hair follicle differentiation; loss-of-function alters hair shaft structure. | OMIM #190320; PubMed studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 23.5 | High |
| Hair follicle | 18.2 | High |
| Placenta | 15.8 | High |
| Bone marrow | 8.1 | Medium |
| Salivary gland | 6.4 | Medium |
| Brain | 2.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocytes) | 22.1 | High expression; used in skin differentiation studies |
| MCF7 (breast cancer) | 4.5 | Moderate expression |
| HEK293 (embryonic kidney) | 1.2 | Low expression |
| HepG2 (liver) | 0.8 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.533A>G (p.Gln178Arg) | Missense | Rare | Disrupts homeodomain DNA binding; associated with TDO |
| c.571_574del (p.Glu191Argfs*12) | Frameshift | Rare | Premature truncation; loss of function; TDO |
| c.561C>A (p.Tyr187*) | Nonsense | Rare | Nonsense-mediated decay; Amelogenesis Imperfecta |
| c.319C>T (p.Arg107Trp) | Missense | Rare | Reduced transcriptional activity; TDO |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations (e.g., p.Glu191Argfs*12, p.Tyr187*) lead to truncated protein or mRNA decay, reducing DLX3 activity.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported in DLX3.
Dominant Negative (DN)
Missense mutations in the homeodomain (e.g., p.Gln178Arg) may produce a protein that interferes with wild-type DLX3 function, consistent with autosomal dominant inheritance in TDO.
View complete mutation data：
Gene Ontology (GO)
Pathways
• DLX3 in craniofacial development (Reactome: R-HSA-5617472)
• Hedgehog signaling in hair follicle differentiation (KEGG: hsa04340)
• Wnt signaling in tooth development (KEGG: hsa04310)
Protein Summary
DLX3 is a 287-amino acid homeobox transcription factor (UniProt O60479) containing a conserved homeodomain (residues 155-214) that mediates sequence-specific DNA binding. It localizes to the nucleus and regulates target genes involved in cell proliferation, differentiation, and extracellular matrix formation. DLX3 interacts with other transcription factors (e.g., MSX1, DLX5) and is critical for epithelial-mesenchymal interactions during development. Post-translational modifications include phosphorylation, which modulates its activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DLX3 Knockout HEK293 Cell Line | EDJ-KQ4447 | Human | 1747 | Details Get a Quote |
| DLX3 Knockout HeLa Cell Line | EDJ-KQ26998 | Human | 1747 | Details Get a Quote |
| DLX3 Knockout A-549 Cell Line | EDJ-KQ61562 | Human | 1747 | Details Get a Quote |
| DLX3 Knockout HCT 116 Cell Line | EDJ-KQ70053 | Human | 1747 | Details Get a Quote |
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