Doublecortin domain-containing protein 2

Definition:

Protein that plays a role in the inhibition of canonical Wnt signaling pathway. May be involved in neuronal migration during development of the cerebral neocortex (By similarity). Involved in the control of ciliogenesis and ciliary length.

References:

[1]. Muriel Girard, et al. DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis. Hum Mutat. 2016 Oct;37(10):1025-9. [Content Brief]

[2]. Markus Schueler, et al. DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling. Am J Hum Genet. 2015 Jan 8;96(1):81-92. [Content Brief]

[3]. M'hamed Grati, et al. A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation. Hum Mol Genet. 2015 May 1;24(9):2482-91. [Content Brief]

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