MAD1L1
Description
The MAD1L1 (mitotic arrest deficient 1 like 1) is a protein-coding gene located on chromosome 7.
MAD1L1, also known as Human Accelerated Region 3, plays a crucial role in the evolution of humans from apes. It is a component of the mitotic spindle-assembly checkpoint, preventing the onset of anaphase until all chromosomes are properly aligned at the metaphase plate. MAD1L1 functions as a homodimer and interacts with MAD2L1. This protein may play a role in cell cycle control and tumor suppression. Some studies indicate associations of MAD1L1 with psychiatric disorders, including schizophrenia, bipolar disorder, and depression. Three transcript variants encoding the same protein have been found for this gene.
MAD1L1 is a crucial component of the spindle-assembly checkpoint, ensuring that all chromosomes are properly aligned at the metaphase plate before the onset of anaphase. It forms a complex with the closed conformation of MAD2L1 (C-MAD2) at unattached kinetochores during prometaphase, recruiting an open conformation of MAD2L1 (O-MAD2) and promoting its conversion to C-MAD2, thereby maintaining proper mitotic checkpoint signaling.
MAD1L1 is also known as MAD1, MVA7, PIG9, TP53I9, TXBP181.
