MAD1L1 Chromosome 7
Mitotic arrest deficient 1 like 1
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What This Gene Does
MAD1L1 is a component of the mitotic spindle-assembly checkpoint that prevents the onset of anaphase until all chromosome are properly aligned at the metaphase plate. MAD1L1 functions as a homodimer and interacts with MAD2L1. MAD1L1 may play a role in cell cycle control and tumor suppression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
Gene Info
Gene Group
MicroRNA protein coding host genes
Locus Type
gene with protein product
Location
7p22.3
Ensembl
ENSG00000002822
Associated Conditions (5)
LYMPHOMA
DIFFUSE LARGE B-CELL
SOMATIC
Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition
Mosaic variegated aneuploidy syndrome 1
Key Variants
RS121908981
Pathogenic
LYMPHOMA, DIFFUSE LARGE B-CELL, SOMATIC
Health Risk
RS1341891692
Pathogenic
Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition, Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition
Health Risk
RS2534062497
Pathogenic
Mosaic variegated aneuploidy syndrome 1, Mosaic variegated aneuploidy syndrome 1
Health Risk
RS750824848
Pathogenic
Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition, Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition
Health Risk
RS776490151
Pathogenic
Mosaic variegated aneuploidy syndrome 1, Mosaic variegated aneuploidy syndrome 1
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121908981 | Health Risk | Pathogenic | LYMPHOMA, DIFFUSE LARGE B-CELL, SOMATIC |
| RS1341891692 | Health Risk | Pathogenic | Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition, Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition |
| RS2534062497 | Health Risk | Pathogenic | Mosaic variegated aneuploidy syndrome 1, Mosaic variegated aneuploidy syndrome 1 |
| RS750824848 | Health Risk | Pathogenic | Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition, Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition |
| RS776490151 | Health Risk | Pathogenic | Mosaic variegated aneuploidy syndrome 1, Mosaic variegated aneuploidy syndrome 1 |