CSNK1E Chromosome 22

Casein kinase 1 epsilon
1 variant 1 Health Risk

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What This Gene Does
The protein encoded by this gene is a serine/threonine protein kinase and a member of the casein kinase I protein family, whose members have been implicated in the control of cytoplasmic and nuclear processes, including DNA replication and repair. The encoded protein is found in the cytoplasm as a monomer and can phosphorylate a variety of proteins, including itself. This protein has been shown to phosphorylate period, a circadian rhythm protein. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Feb 2014]
Gene Info
Gene Group
Casein kinase 1 family
Locus Type
gene with protein product
Location
22q13.1
Ensembl
ENSG00000213923
Associated Conditions (2)
Developmental and epileptic encephalopathy
1
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS1569077009 Health Risk Pathogenic Developmental and epileptic encephalopathy, 1, Developmental and epileptic encephalopathy
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