CAMK1

Chr 3

calcium/calmodulin dependent protein kinase I

Also known as: CAMKI

NCBI Gene: 8536 ENSG00000134072 UniProt: Q14012 OMIM: 604998

Calcium/calmodulin-dependent protein kinase I phosphorylates multiple substrates to regulate neuronal differentiation, neurite outgrowth, synaptic formation, and long-term potentiation in response to calcium influx. This gene is extremely intolerant to loss-of-function variants (pLI near 1.0), suggesting that mutations would likely cause severe developmental disorders, though specific associated diseases have not yet been established. Given the critical role in early neuronal development and synaptic function, pathogenic variants would be expected to follow an autosomal dominant inheritance pattern.

OMIM ResearchSummary from RefSeq, UniProt

Calcium/calmodulin-dependent protein kinase I is expressed in many tissues and is a component of a calmodulin-dependent protein kinase cascade. Calcium/calmodulin directly activates calcium/calmodulin-dependent protein kinase I by binding to the enzyme and indirectly promotes the phosphorylation and synergistic activation of the enzyme by calcium/calmodulin-dependent protein kinase I kinase. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.82

LOEUF

Multiple*

Mechanism· predicted