MAD2L1

Chr 4

mitotic arrest deficient 2 like 1

Also known as: HSMAD2, MAD2

NCBI Gene: 4085 ENSG00000164109 UniProt: Q13257

MAD2L1 encodes a component of the mitotic spindle assembly checkpoint that prevents anaphase onset until all chromosomes are properly aligned at the metaphase plate by sequestering CDC20. Mutations cause mosaic variegated aneuploidy syndrome, characterized by constitutional mosaicism for various trisomies and monosomies, intellectual disability, growth retardation, and increased cancer risk, inherited in an autosomal recessive pattern. The gene shows low constraint against loss-of-function variants, consistent with the recessive inheritance pattern observed clinically.

ResearchSummary from RefSeq, UniProt

MAD2L1 is a component of the mitotic spindle assembly checkpoint that prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate. MAD2L1 is related to the MAD2L2 gene located on chromosome 1. A MAD2 pseudogene has been mapped to chromosome 14. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.94

LOEUF

—

Mechanism

Some data sources returned errors (1)