This gene encodes a conserved protein that is similar to DNA-binding proteins, such as major centromere autoantigen B (CENPB). Inactivation of the related gene in mice resulted in epileptic seizures. Childhood Absence Epilepsy (CAE) has been mapped to the same chromosomal location (8q24.3) as this gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Function:
The JRK gene is the human homolog of the mouse jerky gene. The encoded protein has similarity to several nuclear regulatory proteins, including centromere protein B, which indicates that it might function as a DNA binding protein. Insertional inactivation of this gene in transgenic mice results in epileptic seizures. JRK is a strong candidate for Childhood Absence Epilepsy (CAE) as it has been mapped to the same chromosomal location (8q24.3). Two transcript variants encoding different isoforms have been found for this gene.
Subcellular Location:
Nuclear
SWISS:
O75564
Gene ID:
8629
Database links:
Entrez Gene: 8629 Human
Omim: 603210 Human
SwissProt: O75564 Human
Unigene: 535903 Human
Unigene: 683465 Human
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