AK3L1

Protein AK3L1 PDB 2ar7

AK3L1

AK3L1 is a gene that encodes for the enzyme adenylate kinase 3-like 1. This enzyme plays a crucial role in cellular energy metabolism by catalyzing the transfer of phosphate groups between adenine nucleotides. The AK3L1 gene is located on chromosome 9 in humans.

Function

The primary function of AK3L1 is to maintain cellular energy homeostasis by regulating the levels of adenine nucleotides such as ATP and ADP. By facilitating the transfer of phosphate groups between these nucleotides, AK3L1 helps to ensure that cells have an adequate supply of energy for various cellular processes.

Structure

The AK3L1 enzyme consists of a conserved catalytic domain that is responsible for its adenylate kinase activity. This domain contains key amino acid residues that are essential for binding adenine nucleotides and catalyzing the transfer of phosphate groups.

Regulation

The expression of the AK3L1 gene is tightly regulated in response to cellular energy demands. Various signaling pathways and transcription factors can modulate the expression levels of AK3L1 to ensure that cells have sufficient enzyme activity to meet their energy requirements.

Clinical Significance

Mutations in the AK3L1 gene have been associated with certain metabolic disorders and mitochondrial diseases. Dysregulation of AK3L1 expression or activity can disrupt cellular energy metabolism and lead to various pathological conditions.