JRK Products

Description

JRK is the human homolog of the mouse jerky gene. The encoded protein has similarity to several nuclear regulatory proteins, including centromere protein B, suggesting that it might function as a DNA-binding protein. Insertional inactivation of this gene in transgenic mice resulted in epileptic seizures. Childhood Absence Epilepsy (CAE) has been mapped to the same chromosomal location (8q24.3) as this gene, making this gene a strong candidate for CAE. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq]

Bioinformatics

Entrez	8629 Human
Uniprot	NP_003715 Human NP_001070995 Human AAH43351.1 Human
Product By Gene ID	8629
Alternate Names	jerky protein homolog FLJ45729 DKFZp686C24207 JH8jerky (mouse) homolog jerky homolog (mouse)

Diseases related to JRK

Discover more about diseases related to JRK.

Epilepsy
Idiopathic Generalized Epilepsy
Epilepsy, Generalized
Caprine Arthritis-encephalitis
Myoclonic Epilepsy, Juvenile
Absence Epilepsy
Epilepsies, Myoclonic
Epilepsy, Temporal Lobe
Tonic-clonic Epilepsy
Mutation Abnormality
Malnutrition
Colonic Neoplasms
Malignant Tumor Of Colon
Dehydration
De Novo Mutation
Carcinoma
Clonic Convulsion
Benign Rolandic Epilepsy

Pathways for JRK

View related products by pathway and learn more about each of the pathways below.

Centromere Binding
Localization
Bioluminescence
Circadian Rhythm
Circadian Regulation Of Gene Expression
Glycosylation
Regulation Of Gene Expression
Ribosome Assembly
Protein Glycosylation
Ribosome Biogenesis
Cell Cycle
Cellular Localization
Locomotion
Mating
Interphase
Pupation

Bioinformatics Tool for JRK

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