CASK

CASK
Identifiers
Symbol	?
NCBI gene	8573
HGNC	1504
OMIM	300172
RefSeq	NM_003688
UniProt	O14936
Search for Structures Swiss-model Domains InterPro

CASK (Calcium/Calmodulin-dependent Serine Protein Kinase) is a protein encoded by the CASK gene in humans. It is a member of the membrane-associated guanylate kinase (MAGUK) family and plays a crucial role in synaptic function and neurodevelopment.

Structure

CASK is a multi-domain protein that includes a calcium/calmodulin-dependent protein kinase (CaMK) domain, a PDZ domain, an SH3 domain, and a guanylate kinase-like domain. This structure allows CASK to interact with various proteins and participate in multiple cellular processes.

Function

CASK is involved in several key functions within the nervous system. It acts as a scaffold protein, organizing other proteins at the synapse. CASK interacts with neurexins, which are important for synaptic formation and function. It also plays a role in gene expression regulation by interacting with transcription factors such as TBR1.

CASK is implicated in synaptic plasticity, which is essential for learning and memory. It is also involved in the development of the cerebral cortex and the establishment of neural circuits.

Clinical Significance

Mutations in the CASK gene have been associated with several neurological disorders, including X-linked intellectual disability and microcephaly. CASK-related disorders often present with a range of symptoms, including developmental delay, seizures, and cerebellar hypoplasia.

Research

Ongoing research is focused on understanding the precise mechanisms by which CASK mutations lead to neurological disorders. Studies are also exploring potential therapeutic approaches to mitigate the effects of these mutations.

Also see

• Neurexin
• Synaptic plasticity
• X-linked intellectual disability
• Cerebellar hypoplasia