DCX (Doublecortin) Gene: Function, Expression, and Associated Diseases
A comprehensive overview of the DCX gene, including its genomic context, protein function, tissue expression, and clinical significance in neuronal migration disorders.
Gene Information Card
| Symbol | DCX |
|---|---|
| Full Name | Doublecortin |
| Gene Type | Protein coding |
| Chromosomal Location | Xp22.31 |
| NCBI Gene ID | 1641 ncbi.nlm.nih.gov/gene/1641 |
| Ensembl ID | ENSG00000077279 |
| UniProt ID | O43602 |
| OMIM ID | 300121 |
| HGNC ID | 2714 |
| Aliases | DCX, DBCN, LISX, SCLH, XLIS, doublecortex |
Description
The DCX gene encodes doublecortin, a microtubule-associated protein essential for neuronal migration during embryonic brain development. It is required for the proper lamination of the cerebral cortex. Mutations in this gene are a major cause of X-linked lissencephaly (smooth brain) in males and subcortical band heterotopia (double cortex syndrome) in females. The protein stabilizes microtubules and is involved in neuronal process outgrowth and migration.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| X-linked lissencephaly | Loss-of-function mutations in DCX lead to impaired neuronal migration, resulting in a smooth cerebral surface (agyria/pachygyria) due to disrupted cortical lamination. | OMIM 300067; ClinVar |
| Subcortical band heterotopia (double cortex) | Heterozygous mutations in females cause a mosaic pattern of neuronal migration arrest, leading to a band of heterotopic gray matter located beneath the cortex. | OMIM 300067; ClinVar |
| Epilepsy | Both lissencephaly and subcortical band heterotopia are associated with severe epilepsy, likely due to abnormal neuronal circuitry and cortical organization. | OMIM 300067; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | High | High |
| Adrenal Gland | Low | Low |
| Testis | Low | Low |
| Thyroid | Low | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Neurons | High | Key role in neuronal migration and differentiation |
| Neuroblastoma cell lines (e.g., SH-SY5Y) | High | Used as a model for neuronal differentiation |
| Glioblastoma cell lines | Low | Expression is often downregulated in glial tumors |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.533C>T (p.Pro178Leu) | Missense | Rare | Disrupts microtubule binding and neuronal migration |
| c.289G>A (p.Gly97Arg) | Missense | Rare | Impairs protein function and causes lissencephaly |
| c.681_682del (p.Glu228fs) | Frameshift | Rare | Leads to a truncated, non-functional protein |
| c.817C>T (p.Arg273Ter) | Nonsense | Rare | Premature stop codon, resulting in loss of function |
Mutation functional classification
Loss of Function (LOF)
Most DCX mutations are loss-of-function, leading to haploinsufficiency or dominant-negative effects. This disrupts microtubule polymerization and stabilization, impairing neuronal migration.
Gain of Function (GOF)
No clear gain-of-function mutations have been described for DCX.
Dominant Negative (DN)
In females, mutant DCX protein can exert a dominant-negative effect on the wild-type protein, interfering with microtubule function in cells where both are expressed.
View complete mutation data：
Gene Ontology (GO)
| • microtubule binding | • microtubule cytoskeleton organization |
| • neuronal migration | • cerebral cortex development |
| • axon guidance | • cell differentiation |
Pathways
• Microtubule cytoskeleton regulation
• Neuronal migration pathway
• Cortical development
Protein Summary
Doublecortin (DCX) is a 40 kDa microtubule-associated protein that contains two highly conserved doublecortin (DC) domains. It binds to microtubules and promotes their polymerization and stabilization. DCX is expressed in migrating neurons and plays a critical role in the formation of the cerebral cortex. It is also involved in neuronal process outgrowth, axonal guidance, and dendritic spine formation. The protein is a key regulator of neuronal migration, and its dysfunction leads to severe cortical malformations.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DCX Knockout HEK293 Cell Line | EDJ-KQ3697 | Human | 1641 | Details Get a Quote |
| DCXR Knockout HEK293 Cell Line | EDJ-KQ10964 | Human | 51181 | Details Get a Quote |
| DCXR Knockout A-549 Cell Line | EDJ-KQ38776 | Human | 51181 | Details Get a Quote |
| DCXR Knockout HCT 116 Cell Line | EDJ-KQ38777 | Human | 51181 | Details Get a Quote |
| DCXR Knockout HeLa Cell Line | EDJ-KQ38778 | Human | 51181 | Details Get a Quote |
| DCX Knockout HeLa Cell Line | EDJ-KQ53077 | Human | 1641 | Details Get a Quote |
| DCX Knockout A-549 Cell Line | EDJ-KQ61543 | Human | 1641 | Details Get a Quote |
| DCX Knockout HCT 116 Cell Line | EDJ-KQ70035 | Human | 1641 | Details Get a Quote |
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