rs566832776
This variant is located in the MAML1 gene.
▶ClinVar annotation
About MAML1
This protein is the human homolog of mastermind, a Drosophila protein that plays a role in the Notch signaling pathway involved in cell-fate determination. There is in vitro evidence that the human homolog forms a complex with the intracellular portion of human Notch receptors and can increase expression of a Notch-induced gene. This evidence supports its proposed function as a transcriptional co-activator in the Notch signaling pathway. [provided by RefSeq, Jul 2008]
View all MAML1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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