Coiled-coil domain containing 88b
Coiled-coil domain containing 88b (CCDC88B) is a protein that in humans is encoded by the CCDC88B gene. This protein is a member of the Girdin family and is known to play a significant role in the regulation of cell migration and neuronal development.
Function[edit | edit source]
The CCDC88B protein is a member of the Girdin family, which also includes Girdin (CCDC88A) and DAPLE (CCDC88C). These proteins are characterized by the presence of a coiled-coil domain, which facilitates protein-protein interactions. The CCDC88B protein is known to play a role in the regulation of cell migration and neuronal development, although the exact mechanisms are not fully understood.
Gene[edit | edit source]
The CCDC88B gene is located on the short (p) arm of chromosome 11 at position 15.1. The gene spans approximately 73 kilobases and consists of 23 exons. The encoded protein is 1,313 amino acids in length.
Clinical significance[edit | edit source]
Alterations in the CCDC88B gene have been associated with various neurological disorders. For example, a study published in 2015 found that mutations in this gene were associated with autism spectrum disorders in a Chinese population. However, more research is needed to fully understand the role of this gene in disease.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
- CCDC88B at the National Center for Biotechnology Information
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Contributors: Prab R. Tumpati, MD