DLX6: Distal-Less Homeobox 6
A key transcription factor in craniofacial and brain development
Gene Information Card
| Symbol | DLX6 |
|---|---|
| Full Name | Distal-Less Homeobox 6 |
| Gene Type | Protein-coding |
| Chromosomal Location | 7q21.3 |
| NCBI Gene ID | 1750 ncbi.nlm.nih.gov/gene/1750 |
| Ensembl ID | ENSG00000105974 |
| UniProt ID | P56178 |
| OMIM ID | 600030 |
| HGNC ID | 2918 |
| Aliases | DLX6, Dlx-6, homeobox protein DLX-6 |
Description
DLX6 encodes a member of the DLX homeobox transcription factor family, which is essential for embryonic development, particularly of the craniofacial structures, brain, and limbs. The protein acts as a transcriptional regulator, often in cooperation with DLX5, and is involved in patterning and differentiation of neural crest-derived tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Split-hand/foot malformation 1 (SHFM1) | DLX6 deletions or disruptions impair limb bud development, leading to ectrodactyly. | OMIM #183600; ClinVar |
| Cleft palate | DLX6 deficiency disrupts palatal shelf fusion in animal models. | OMIM #600030; NCBI Gene |
| Orofacial clefting | DLX6 variants contribute to non-syndromic cleft lip/palate. | ClinVar; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Salivary gland | 8.3 | Low |
| Testis | 6.1 | Low |
| Kidney | 4.2 | Low |
| Lung | 3.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.2 | Neuroblastoma cell line |
| HepG2 | 2.1 | Hepatocellular carcinoma |
| A549 | 1.8 | Lung carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.502C>T (p.Arg168Trp) | Missense | Rare | Altered DNA-binding affinity |
| Whole gene deletion | Structural | Rare | Haploinsufficiency in SHFM1 |
Mutation functional classification
Loss of Function (LOF)
Most DLX6 mutations are loss-of-function, leading to haploinsufficiency in craniofacial and limb disorders.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described for DLX6.
View complete mutation data：
Gene Ontology (GO)
Pathways
• DLX5/DLX6 regulatory network in craniofacial development
• Homeobox gene regulation of limb formation
Protein Summary
DLX6 is a 280-amino acid homeodomain-containing transcription factor. It localizes to the nucleus and binds DNA as a homodimer or heterodimer with DLX5. The protein is critical for regulating genes involved in cell proliferation, migration, and differentiation during embryogenesis, especially in the mandibular arch, forebrain, and limb buds.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DLX6 Knockout HEK293 Cell Line | EDJ-KQ50239 | Human | 1750 | Details Get a Quote |
| DLX6 Knockout HeLa Cell Line | EDJ-KQ53093 | Human | 1750 | Details Get a Quote |
| DLX6 Knockout A-549 Cell Line | EDJ-KQ61564 | Human | 1750 | Details Get a Quote |
| DLX6 Knockout HCT 116 Cell Line | EDJ-KQ70055 | Human | 1750 | Details Get a Quote |
