CAMK4 Chromosome 5
Calcium/calmodulin dependent protein kinase IV
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What This Gene Does
The product of this gene belongs to the serine/threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. This enzyme is a multifunctional serine/threonine protein kinase with limited tissue distribution, that has been implicated in transcriptional regulation in lymphocytes, neurons and male germ cells. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
CAMK1 family
Locus Type
gene with protein product
Location
5q22.1
Ensembl
ENSG00000152495
Associated Conditions (2)
Intellectual disability
Involuntary movements
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1561515242 | Health Risk | Pathogenic | Intellectual disability, Involuntary movements, Intellectual disability |
| RS2532040581 | Health Risk | Pathogenic | — |