Gene: MAD2L1BP

Alternate names for this Gene: CMT2

Gene Summary: The protein encoded by this gene was identified as a binding protein of the MAD2 mitotic arrest deficient-like 1 (MAD2/MAD2L1). MAD2 is a key component of the spindle checkpoint that delays the onset of anaphase until all the kinetochores are attached to the spindle. This protein may interact with the spindle checkpoint and coordinate cell cycle events in late mitosis. Alternatively spliced transcript variants encoding distinct isoforms have been observed.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.1

Description of this Gene: MAD2L1 binding protein

Type of Gene: protein-coding

rs35679149 in MAD2L1BP gene and Body mass index PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.