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O43602 Proteins Doublecortin domain Repeats
Uniprot ID:O43602
Protein name: Neuronal migration protein doublecortin
Gene : DCX DBCN LISX
Protein Family:
Squence Length : 365
Sequnce
>O43602 366 MELDFGHFDERDKTSRNMRGSRMNGLPSPTHSAHCSFYRTRTLQALSNEKKAKKVRFYRNGDRYFKGIVYAVSSDRFRSFDALLADLTRSLSDNINLPQGVRYIYTIDGSRKIGSMDELEEGESYVCSSDNFFKKVEYTKNVNPNWSVNVKTSANMKAPQSLASSNSAQARENKDFVRPKLVTIIRSGVKPRKAVRVLLNKKTAHSFEQVLTDITEAIKLETGVVKKLYTLDGKQVTCLHDFFGDDDVFIACGPEKFRYAQDDFSLDENECRVMKGNPSATAGPKASPTPQKTSAKSPGPMRRSKSPADSGNDQDANGTSSSQLSTPKSKQSPISTPTSPGSLRKHKDLYLPLSLDDSDSLGDSM
Domains
DOMAIN 53 139 Doublecortin 1 DOMAIN 180 263 Doublecortin 2
Doublecortin sequence regions
53 - 139 VRFYRNGDRYFKGIVYAVSSDRFRSFDALLADLTRSLSDNINLPQGVRYIYTIDGSRKIGSMDELEEGESYVCSSDNFFKKVEYTKN 180 - 263 VTIIRSGVKPRKAVRVLLNKKTAHSFEQVLTDITEAIKLETGVVKKLYTLDGKQVTCLHDFFGDDDVFIACGPEKFRYAQDDFS
Function
"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"
Disease
"DISEASE: Lissencephaly, X-linked 1 (LISX1) [MIM:300067]: A classic lissencephaly characterized by mental retardation and seizures that are more severe in male patients Affected boys show an abnormally thick cortex with absent or severely reduced gyri Clinical manifestations include feeding problems, abnormal muscular tone, seizures and severe to profound psychomotor retardation Female patients display a less severe phenotype referred to as 'doublecortex' Note=The disease is caused by mutations affecting the gene represented in this entry ; DISEASE: Subcortical band heterotopia X-linked (SBHX) [MIM:300067]: SBHX is a mild brain malformation of the lissencephaly spectrum It is characterized by bilateral and symmetric plates or bands of gray matter found in the central white matter between the cortex and cerebral ventricles, cerebral convolutions usually appearing normal Note=The disease is caused by mutations affecting the gene represented in this entry ; DISEASE: Note=A chromosomal aberration involving DCX is found in lissencephaly Translocation t(X;2)(q22 3;p25 1)"