CHEK1 Chromosome 11

Checkpoint kinase 1
5 variants 5 Health Risk

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What This Gene Does
The protein encoded by this gene belongs to the Ser/Thr protein kinase family. It is required for checkpoint mediated cell cycle arrest in response to DNA damage or the presence of unreplicated DNA. This protein acts to integrate signals from ATM and ATR, two cell cycle proteins involved in DNA damage responses, that also associate with chromatin in meiotic prophase I. Phosphorylation of CDC25A protein phosphatase by this protein is required for cells to delay cell cycle progression in response to double-strand DNA breaks. Several alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2011]
Gene Info
Gene Group
Checkpoint kinase 1 family
Locus Type
gene with protein product
Location
11q24.2
Ensembl
ENSG00000149554
Associated Conditions (2)
Male infertility due to gonadal dysgenesis or sperm disorder
Oocyte/zygote/embryo maturation arrest 21
Key Variants
All Variants (5)
RSID Category Clinical Significance Conditions
RS199535573 Health Risk Likely pathogenic Male infertility due to gonadal dysgenesis or sperm disorder, Male infertility due to gonadal dysgenesis or sperm disorder
RS2136029824 Health Risk Pathogenic Oocyte/zygote/embryo maturation arrest 21, Oocyte/zygote/embryo maturation arrest 21
RS2498413938 Health Risk Pathogenic Oocyte/zygote/embryo maturation arrest 21, Oocyte/zygote/embryo maturation arrest 21
RS2498414424 Health Risk Pathogenic Oocyte/zygote/embryo maturation arrest 21, Oocyte/zygote/embryo maturation arrest 21
RS2498414471 Health Risk Pathogenic Oocyte/zygote/embryo maturation arrest 21, Oocyte/zygote/embryo maturation arrest 21
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