UniProtSummary | FUNCTION:Seemstoberequiredforinitialstepsofneuronaldispersionandcortexlaminationduringcerebralcortexdevelopment.MayactbycompetingwiththeputativeneuronalproteinkinaseDCAMKL1inbindingtoatargetprotein.Mayinthatwayparticipateinasignalingpathwaythatiscrucialforneuronalinteractionbeforeandduringmigration,possIBLyaspartofacalciumion-dependentsignaltransductionpathway.MaybepartwithLIS-1ofanoverlapping,butdistinct,signalingpathwaysthatpromoteneuronalmigration.
SUBUNITSTRUCTURE:Interactswithtubulin.
SUBCELLULARLOCATION:Cytoplasm.
TISSUESPECIFICITY:Highlyexpressedinneuronalcellsoffetalbrain(inthemajorityofcellsofthecorticalplate,intermediatezoneandventricularzone),butnotexpressedinotherfetaltissues.Intheadult,highlyexpressedinthebrainfrontallobe,butverylowexpressioninotherregionsofbrain,andnotdetectedinheart,placenta,lung,liver,skeletalmuscles,kidneyandpancreas.
DISEASE:DefectsinDCXarethecauseoflissencephalyX-linkedtype1(LISX1)[MIM:300067];alsocalledX-LISorLIS.LISX1isaclassiclissencephalycharacterizedbymentalretardationandseizuresthataremoresevereinmalepatients.Affectedboysshowanabnormallythickcortexwithabsentorseverelyreducedgyri.Clinicalmanifestationsincludefeedingproblems,abnormalmusculartone,seizuresandseveretoprofoundpsychomotorretardation.Femalepatientsdisplayalessseverephenotypereferredtoas"doublecortex".Ref.1Ref.2Ref.9Ref.10Ref.18Ref.21
DefectsinDCXarethecauseofsubcorticalbandheterotopiaX-linked(SBHX)[MIM:300067];alsoknownasdoublecortexorsubcorticallaminarheterotopia(SCLH).SBHXisamildbrainmalformationofthelissencephalyspectrum.Itischaracterizedbybilateralandsymmetricplatesorbandsofgraymatterfoundinthecentralwhitematterbetweenthecortexandcerebralventricles,cerebralconvolutionsusuallyappearingnormal.Ref.11Ref.12Ref.13Ref.14Ref.15Ref.16Ref.17Ref.19
AchromosomalaberrationinvolvingDCXisfoundinlissencephaly.Translocationt(X;2)(q22.3;p25.1).
SEQUENCESIMILARITY:Contains2doublecortindomains.
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