NUMB

Protein numb homolog is a protein that in humans is encoded by the NUMB gene.

The protein encoded by this gene plays a role in the determination of cell fates during development. The encoded protein, whose degradation is induced in a proteasome-dependent manner by MDM2, is a membrane-bound protein that has been shown to associate with EPS15, LNX1, and NOTCH1. Four transcript variants encoding different isoforms have been found for this gene.

Pathology

 Genetic variants of numb gene are associated with elevated total cholesterol level and low density lipoprotein cholesterol level. (26264115)

Open references

 Genetic variants of numb gene were associated with elevated total cholesterol level and low density lipoprotein cholesterol level in Chinese subjects, in Xinjiang, China. Abudoukelimu M, Fu ZY, Xiang Y, Ma YT, Zhu Q, Abudu M, Adi D, Yang YN, Li XM, Xie X, Liu F, Chen BD. Diagn Pathol. 2015 Aug 12;10:141. doi : 10.1186/s13000-015-0373-2 PMID: 26264115 (Free)