AlphaFold predicted structure
DCX · O43602
Mean pLDDT
66.5/ 100
Low
365 residues
Confidence breakdown
- Very high(≥ 90)10%
- Confident(70–90)36%
- Low(50–70)25%
- Very low(< 50)29%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
DCX
Chr Xq23doublecortin
- Aliases:
- SCLH, DC, LISX, DBCN, XLIS
- MANE:
- ENST00000636035.2
Annotations refreshed 10 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Fetal anomalies
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Malformations of cortical development
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Cerebral vascular malformations
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Inherited white matter disorders
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)White matter disorders and cerebral calcification - narrow panel
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Disease associations (Open Targets)
lissencephaly type 1 due to doublecortin gene mutation
0.86subcortical band heterotopia
0.68Non-syndromic cerebral malformation due to abnormal neuronal migration
0.56Abnormal cortical gyration
0.52hereditary disease
0.52lissencephaly spectrum disorders
0.47Lissencephaly
0.46neurodevelopmental disorder
0.37Abnormal cerebral morphology
0.36Abnormality of the nervous system
0.34
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Neuronal migration protein doublecortin
Microtubule-associated protein required for initial steps of neuronal dispersion and cortex lamination during cerebral cortex development. May act by competing with the putative neuronal protein kinase DCLK1 in binding to a target protein. May in that way participate in a signaling pathway that is crucial for neuronal interaction before and during migration, possibly as part of a calcium ion-dependent signal transduction pathway. May be part with PAFAH1B1/LIS-1 of overlapping, but distinct, signaling pathways that promote neuronal migration