Gene: MAML1

Alternate names for this Gene: Mam-1|Mam1

Gene Summary: 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.

Gene is located in Chromosome: 5

Location in Chromosome : 5q35.3

Description of this Gene: mastermind like transcriptional coactivator 1

Type of Gene: protein-coding

rs76025697 in MAML1 gene and Blood basophil count (lab test) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs76025697 in MAML1 gene and Eosinophil count procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs76025697 in MAML1 gene and Granulocyte count PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs76025697 in MAML1 gene and Neutrophil count (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs17617068 in MAML1 gene and RESTING HEART RATE PMID 24680774 2014 Insight into genetic determinants of resting heart rate.