CCDC64B
ccdc64b: A Crucial Gene for Neuronal Development and Function
Description
Coiled-coil domain containing 64B (ccdc64b) is a gene encoding a protein essential for neuronal development and function. It is located on chromosome 16q12.1 and consists of 14 exons and 13 introns. The ccdc64b protein contains several functional domains, including a coiled-coil domain, a leucine zipper, and a nuclear localization signal.
Associated Diseases
Mutations in the ccdc64b gene have been linked to several neurodevelopmental disorders, including:
- Syndromic microcephaly 39 (MCPH39): A rare genetic condition characterized by intellectual disability, microcephaly (abnormally small head size), and distinctive facial features.
- Intellectual disability, non-syndromic 142 (IDD142): A form of intellectual disability without specific physical or developmental features.
Did you Know ?
Approximately 5% of individuals with syndromic microcephaly 39 have mutations in the ccdc64b gene.
