Doublecortin domain-containing protein 2 (DCDC2) belongs to the doublecortin (DCX) superfamily and contains two doublecortin domains. DCDC2 is expressed in the fetal and adult central nervous system (CNS). DCDC2 gene is mapped to human chromosome 6p22.3.
Specificity
Anti-DCDC2 (C-terminal) specifically recognizes human DCDC2.
Application
Anti-DCDC2 antibody produced in rabbit is suitable for western blot analysis at a working concentration of 0.5-1μg/mL using a HEK-293T cell lysate expressing human DCDC2.
Biochem/physiol Actions
DCDC2 is one of the dyslexia susceptibility genes involved in neuronal migration and other developmental processes. The DCX domain of DCDC2 binds tubulin and enhances microtubule polymerization. Several SNPs within the DCDC2 gene have been associated with dyslexia. It modulates neuronal development in the brain.
Mutations in the DCDC2 gene is implicated in non-syndromic recessive deafness DFNB66 neonatal sclerosing cholangitis (NSC) and renal-hepatic ciliopathy.
Physical form
Solution in 0.01 M phosphate buffered saline, pH 7.4, containing 15 mM sodium azide.
Storage and Stability
For continuous use, store at 2–8 °C for up to one month. For extended storage, freeze in working aliquots at –20 °C. Repeated freezing and thawing, or storage in “frost-free” freezers, is not recommended. If slight turbidity occurs upon prolonged storage, clarify the solution by centrifugation before use. Working dilutions should be discarded if not used within 12 hours.
Disclaimer
Unless otherwise stated in our catalog, our products are intended for research use only and are not to be used for any other purpose, which includes but is not limited to, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses or any type of consumption or application to humans or animals.
Clinics and research in hepatology and gastroenterology, 44(5), e103-e108 (2020-03-25)
Neonatal sclerosing cholangitis (NSC) is a severe cholestatic liver disease, which often develops into end-stage liver disease in childhood and requires liver transplantation. Mutations in CLDN1 and DCDC2 are confirmed to be the main pathogenic mechanism of NSC. Whole exon
Doublecortin (DCX) domains serve as protein-interaction platforms. Mutations in members of this protein superfamily are linked to several genetic diseases. Mutations in the human DCX gene result in abnormal neuronal migration, epilepsy, and mental retardation; mutations in RP1 are associated
Trends in molecular medicine, 12(7), 333-341 (2006-06-20)
Four genes have recently been proposed as candidates for dyslexia: dyslexia susceptibility 1 candidate 1 (DYX1C1), roundabout Drosophila homolog 1 (ROBO1), doublecortin domain-containing protein 2 (DCDC2) and KIAA0319. Each gene is implicated in global brain-development processes such as neural migration
American journal of human genetics, 96(1), 81-92 (2015-01-06)
Nephronophthisis-related ciliopathies (NPHP-RC) are recessive diseases characterized by renal dysplasia or degeneration. We here identify mutations of DCDC2 as causing a renal-hepatic ciliopathy. DCDC2 localizes to the ciliary axoneme and to mitotic spindle fibers in a cell-cycle-dependent manner. Knockdown of
American journal of human genetics, 78(1), 52-62 (2005-12-31)
We searched for linkage disequilibrium (LD) in 137 triads with dyslexia, using markers that span the most-replicated dyslexia susceptibility region on 6p21-p22, and found association between the disease and markers within the VMP/DCDC2/KAAG1 locus. Detailed refinement of the LD region
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