doublecortin domain containing 2
The information on this page was automatically extracted from online scientific databases.
From NCBI Gene:
This gene encodes a doublecortin domain-containing family member. The doublecortin domain has been demonstrated to bind tubulin and enhance microtubule polymerization. This family member is thought to function in neuronal migration where it may affect the signaling of primary cilia. Mutations in this gene have been associated with reading disability (RD) type 2, also referred to as developmental dyslexia. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2013]
Protein that plays a role in the inhibition of canonical Wnt signaling pathway (PubMed:25557784). May be involved in neuronal migration during development of the cerebral neocortex (By similarity). Involved in the control of ciliogenesis and ciliary length (PubMed:25601850, PubMed:27319779).
Covered on Genetics Home Reference:
From NCBI Gene:
- Deafness, autosomal recessive 66
- Nephronophthisis 19
- SCLEROSING CHOLANGITIS, NEONATAL
Dyslexia 2 (DYX2): A relatively common, complex cognitive disorder characterized by an impairment of reading performance despite adequate motivational, educational and intellectual opportunities. It is a multifactorial trait, with evidence for familial clustering and heritability. [MIM:600202]
Nephronophthisis 19 (NPHP19): A form of nephronophthisis, an autosomal recessive disorder characterized by chronic tubulointerstitial nephritis resulting in end-stage renal disease. NPHP19 patients also manifest hepatosplenomegaly, hepatic fibrosis, destruction of the bile ducts, focal bile ductal proliferation, ductal plate malformation, and cholestasis. [MIM:616217]
Deafness, autosomal recessive, 66 (DFNB66): A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. [MIM:610212]
DCDC2 mutations are a cause of neonatal sclerosing cholangitis (NCS) without ichtyosis, a severe cholangiopathy of neonates with patent biliary ducts, leading to biliary cirrhosis.