Gene Symbol | DCDC2 |
Entrez Gene ID | 51473 |
Full Name | doublecortin domain containing 2 |
Synonyms | DCDC2A,DFNB66,NPHP19,NSC,RU2,RU2S |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Nephronophthisis 19, 616217 (3); ?Deafness, autosomal recessive 66, 610212 (3); Sclerosing cholangitis, neonatal, 617394 (3) |