ahN2

ahN2 is a protein found in humans and other mammals. It is encoded by the AHN2 gene. This gene is located on chromosome 1. The ahN2 protein is a member of the Niemann-Pick type C2 protein family. These proteins are involved in cholesterol metabolism and transport. Specifically, ahN2 is thought to play a role in the intracellular trafficking of cholesterol. It is believed to facilitate the movement of cholesterol from late endosomes to the endoplasmic reticulum. Mutations in the AHN2 gene have been linked to a rare genetic disorder called Niemann-Pick disease type C. This disease is characterized by the accumulation of cholesterol and other lipids within cells, leading to progressive neurological and organ damage. While research on ahN2 is ongoing, its precise functions and the full spectrum of its involvement in cellular processes are still being investigated. Understanding ahN2's role is crucial for developing potential therapeutic strategies for Niemann-Pick disease and other lipid-related disorders.