CDKAL1

CDKAL1 is a gene located on chromosome 6p22.3 in humans. It encodes a CDK5 regulatory subunit associated protein 1-like 1 protein, also known as cyclin-dependent kinase 5 regulatory subunit associated protein 1-like 1.

The CDKAL1 protein is thought to play a role in tRNA modification, specifically in the biosynthesis of a modified uridine base in certain tRNAs. This modification is crucial for efficient and accurate protein translation.

Genetic variations in CDKAL1 have been strongly associated with an increased risk of developing type 2 diabetes. The exact mechanism by which CDKAL1 influences diabetes risk is still being investigated, but it is hypothesized that the tRNA modification pathway affects insulin secretion and/or beta-cell function. Polymorphisms in CDKAL1 may impair the efficient translation of proteins essential for glucose homeostasis.

Further research continues to explore the precise function of CDKAL1 and its contribution to the development of type 2 diabetes. The protein belongs to a class of tRNA modifying enzymes and its dysfunction can potentially have wider impacts on cellular function beyond its documented association with type 2 diabetes.