DCX Chromosome X
Doublecortin
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What This Gene Does
This gene encodes a member of the doublecortin family. The protein encoded by this gene is a cytoplasmic protein and contains two doublecortin domains, which bind microtubules. In the developing cortex, cortical neurons must migrate over long distances to reach the site of their final differentiation. The encoded protein appears to direct neuronal migration by regulating the organization and stability of microtubules. In addition, the encoded protein interacts with LIS1, the regulatory gamma subunit of platelet activating factor acetylhydrolase, and this interaction is important to proper microtubule function in the developing cortex. Mutations in this gene cause abnormal migration of neurons during development and disrupt the layering of the cortex, leading to epilepsy, cognitive disability, subcortical band heterotopia ("double cortex" syndrome) in females and lissencephaly ("smooth brain" syndrome) in males. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2010]
Gene Info
Gene Group
Doublecortin superfamily
Locus Type
gene with protein product
Location
Xq23
Ensembl
ENSG00000077279
Associated Conditions (13)
Subcortical laminar heterotopia
X-linked
Lissencephaly type 1 due to doublecortin gene mutation
Inborn genetic diseases
Ectopic tissue
Neurodevelopmental disorder
Seizure
Lissencephaly
Fucosidosis
Abnormal cortical gyration
Subcortical band heterotopia
Abnormality of the nervous system
Abnormal cerebral morphology
Key Variants
RS104894786
Conflicting classifications of pathogenicity
Subcortical laminar heterotopia, X-linked, Lissencephaly type 1 due to doublecortin gene mutation
Health Risk
RS2147276286
Conflicting classifications of pathogenicity
Health Risk
RS2524627990
Conflicting classifications of pathogenicity
Lissencephaly type 1 due to doublecortin gene mutation, Lissencephaly type 1 due to doublecortin gene mutation
Health Risk
RS267606317
Conflicting classifications of pathogenicity
Ectopic tissue, Lissencephaly type 1 due to doublecortin gene mutation, Ectopic tissue
Health Risk
RS587783529
Conflicting classifications of pathogenicity
Ectopic tissue, Neurodevelopmental disorder, Ectopic tissue
Health Risk
RS587783544
Conflicting classifications of pathogenicity
Ectopic tissue, Ectopic tissue
Health Risk
RS587783559
Conflicting classifications of pathogenicity
Ectopic tissue, Lissencephaly type 1 due to doublecortin gene mutation, Ectopic tissue
Health Risk
RS587783563
Conflicting classifications of pathogenicity
Ectopic tissue, Ectopic tissue, Lissencephaly type 1 due to doublecortin gene mutation
Health Risk
RS587783568
Conflicting classifications of pathogenicity
Ectopic tissue, Lissencephaly type 1 due to doublecortin gene mutation, Ectopic tissue
Health Risk
RS727503897
Conflicting classifications of pathogenicity
Health Risk
RS753011298
Conflicting classifications of pathogenicity
Inborn genetic diseases, Lissencephaly, Inborn genetic diseases
Health Risk
RS1085307919
Likely pathogenic
Health Risk
All Variants (145)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS104894785 | Health Risk | Pathogenic | Subcortical laminar heterotopia, X-linked, Ectopic tissue |
| RS1064793735 | Health Risk | Pathogenic | — |
| RS1064794223 | Health Risk | Pathogenic | Lissencephaly type 1 due to doublecortin gene mutation, Lissencephaly type 1 due to doublecortin gene mutation |
| RS1085307851 | Health Risk | Pathogenic | — |
| RS1556401725 | Health Risk | Pathogenic | Subcortical laminar heterotopia, X-linked, Subcortical laminar heterotopia |
| RS1556401744 | Health Risk | Pathogenic | Subcortical laminar heterotopia, X-linked, Lissencephaly type 1 due to doublecortin gene mutation |
| RS1556404991 | Health Risk | Pathogenic | Subcortical laminar heterotopia, X-linked, Subcortical laminar heterotopia |
| RS1556405065 | Health Risk | Pathogenic | — |
| RS1556405129 | Health Risk | Pathogenic | Lissencephaly type 1 due to doublecortin gene mutation, Lissencephaly type 1 due to doublecortin gene mutation |
| RS1569497266 | Health Risk | Pathogenic | Subcortical laminar heterotopia, X-linked, Subcortical laminar heterotopia |
| RS1569498597 | Health Risk | Pathogenic | Subcortical laminar heterotopia, X-linked, Subcortical laminar heterotopia |
| RS201870761 | Health Risk | Pathogenic | Ectopic tissue, Ectopic tissue |
| RS2147262624 | Health Risk | Pathogenic | — |
| RS2147262801 | Health Risk | Pathogenic | Lissencephaly type 1 due to doublecortin gene mutation, Lissencephaly type 1 due to doublecortin gene mutation |
| RS2147263186 | Health Risk | Pathogenic | Subcortical band heterotopia, Subcortical band heterotopia |
| RS2147263208 | Health Risk | Pathogenic | Lissencephaly type 1 due to doublecortin gene mutation, Lissencephaly type 1 due to doublecortin gene mutation, Lissencephaly type 1 due to doublecortin gene mutation |
| RS2147263289 | Health Risk | Pathogenic | — |
| RS2147263424 | Health Risk | Pathogenic | — |
| RS2147276330 | Health Risk | Pathogenic | Abnormality of the nervous system, Abnormality of the nervous system |
| RS2147276732 | Health Risk | Pathogenic | — |
| RS2147635268 | Health Risk | Pathogenic | Abnormal cerebral morphology, Abnormal cerebral morphology |
| RS2524691724 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2524834596 | Health Risk | Pathogenic | — |
| RS56030372 | Health Risk | Pathogenic | Subcortical laminar heterotopia, X-linked, Lissencephaly type 1 due to doublecortin gene mutation |
| RS587783518 | Health Risk | Pathogenic | Ectopic tissue, Ectopic tissue |
| RS587783519 | Health Risk | Pathogenic | Ectopic tissue, Inborn genetic diseases, Lissencephaly type 1 due to doublecortin gene mutation |
| RS587783520 | Health Risk | Pathogenic | Ectopic tissue, Ectopic tissue |
| RS587783521 | Health Risk | Pathogenic | Ectopic tissue, Ectopic tissue |
| RS587783522 | Health Risk | Pathogenic | Ectopic tissue, Ectopic tissue |
| RS587783523 | Health Risk | Pathogenic | Ectopic tissue, Ectopic tissue |
| RS587783524 | Health Risk | Pathogenic | Ectopic tissue, Ectopic tissue |
| RS587783527 | Health Risk | Pathogenic | Ectopic tissue, Ectopic tissue |
| RS587783532 | Health Risk | Pathogenic | Ectopic tissue, Ectopic tissue |
| RS587783533 | Health Risk | Pathogenic | Ectopic tissue, Ectopic tissue |
| RS587783534 | Health Risk | Pathogenic | Ectopic tissue, Lissencephaly type 1 due to doublecortin gene mutation, Lissencephaly type 1 due to doublecortin gene mutation |
| RS587783535 | Health Risk | Pathogenic | Ectopic tissue, Ectopic tissue |
| RS587783536 | Health Risk | Pathogenic | Ectopic tissue, Ectopic tissue |
| RS587783537 | Health Risk | Pathogenic | Ectopic tissue, Ectopic tissue |
| RS587783539 | Health Risk | Pathogenic | Ectopic tissue, Ectopic tissue |
| RS587783540 | Health Risk | Pathogenic | Ectopic tissue, Ectopic tissue |
| RS587783541 | Health Risk | Pathogenic | Ectopic tissue, Lissencephaly type 1 due to doublecortin gene mutation, Ectopic tissue |
| RS587783545 | Health Risk | Pathogenic | Ectopic tissue, Ectopic tissue |
| RS587783548 | Health Risk | Pathogenic | Ectopic tissue, Ectopic tissue |
| RS587783549 | Health Risk | Pathogenic | Ectopic tissue, Ectopic tissue |
| RS587783550 | Health Risk | Pathogenic | Ectopic tissue, Ectopic tissue |
| RS587783551 | Health Risk | Pathogenic | Ectopic tissue, Ectopic tissue |
| RS587783552 | Health Risk | Pathogenic | Ectopic tissue, Ectopic tissue |
| RS587783553 | Health Risk | Pathogenic | Ectopic tissue, Ectopic tissue, Ectopic tissue |
| RS587783554 | Health Risk | Pathogenic | Ectopic tissue, Ectopic tissue |
| RS587783555 | Health Risk | Pathogenic | Ectopic tissue, Ectopic tissue |