General Information:

Id: 3,005 (click here to show other Interactions for entry)
Diseases: Diabetes mellitus, type II - [OMIM]
Insulin resistance
MODY, type XI - [OMIM]
Homo sapiens
Reference: Borowiec M et al.(2009) Mutations at the BLK locus linked to maturity onset diabetes of the young and beta-cell dysfunction. Proc. Natl. Acad. Sci. U.S.A. 106 [PMID: 19667185]

Interaction Information:

Comment Maturity-onset diabetes of the young (MODY) is a subtype of diabetes defined by an autosomal pattern of inheritance and a young age at onset, often before age 25. The study identified an Ala71Thr substitution in the BLK gene in MODY families unlinked to known MODY genes. BLK--a nonreceptor tyrosine-kinase of the src family of proto-oncogenes--is expressed in beta-cells where it enhances insulin synthesis and secretion in response to glucose by up-regulating transcription factors Pdx1 and Nkx6.1. These actions are greatly attenuated by the Ala71Thr mutation. These findings point to BLK as a previously unrecognized modulator of beta-cell function, the deficit of which may lead to the development of diabetes.
Formal Description
Interaction-ID: 27359