CLIP2 : CAP-Gly domain containing linker protein 2

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Description

The CLIP2 gene (CLIP2, also known as CAP-Gly domain containing linker protein 2) encodes a protein involved in microtubule-based intracellular transport, specifically in the regulation of kinesin-mediated cargo movement. CLIP2 interacts with various proteins, including microtubules, kinesins, and dynactin, forming a complex network that ensures efficient and targeted cargo delivery within cells. This gene plays a critical role in neuronal development, dendrite formation, and synaptic function, highlighting its importance in maintaining normal brain function.

Associated Diseases

• Spinocerebellar ataxia type 12 (SCA12)
• Hereditary spastic paraplegia (HSP)
• Neurodevelopmental disorders

Did you know?

Mutations in CLIP2 have been linked to the development of spinocerebellar ataxia type 12 (SCA12), a neurodegenerative disorder characterized by progressive loss of coordination and balance.