ATPIF1
ATPIF1: The Protein that Powers Cellular Energy
Description
ATPase inhibitory factor 1 (ATPIF1) is an essential protein that plays a crucial role in cellular energy production. It is a ubiquitous protein found in all eukaryotic cells, where it regulates the activity of F1-ATPase, the enzyme responsible for producing adenosine triphosphate (ATP) from adenosine diphosphate (ADP).
ATP is the primary energy currency of cells, and its synthesis via F1-ATPase is essential for cellular processes such as muscle contraction, nerve conduction, and chemical synthesis. ATPIF1 inhibits F1-ATPase, preventing it from hydrolyzing ATP and releasing energy prematurely.
Associated Diseases
Mutations in the ATPIF1 gene have been linked to various inherited disorders, including:
- Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS): A progressive neurological disorder characterized by muscle weakness, seizures, strokes, and lactic acidosis.
- Leigh syndrome: A fatal neurodegenerative disorder that affects infants and young children, manifesting as delayed development, muscle hypotonia, seizures, and respiratory problems.
- Neurogenic weakness with ataxia and retinitis pigmentosa (NARP): A condition that affects the nervous system, muscles, and vision, causing muscle weakness, ataxia, and blindness.
Did you Know ?
ATPIF1 is one of the most highly conserved proteins across all eukaryotes. Its amino acid sequence is nearly identical in humans, mice, and even plants, indicating its fundamental importance in cellular metabolism.
