What does the NPC1 gene do?

The NPC1 gene provides instructions for making a protein that is located within the membrane of compartments in the cell called lysosomes and endosomes, which digest and recycle materials.

What is NPC1 protein?

Abstract. Niemann–Pick C1 protein (NPC1) is a late-endosomal membrane protein involved in trafficking of LDL-derived cholesterol, Niemann–Pick disease type C, and Ebola virus infection. NPC1 contains 13 transmembrane segments (TMs), five of which are thought to represent a “sterol-sensing domain” (SSD).

How does NPC1 work?

NPC1 encodes a large protein that resides in the membrane of endosomes and lysosomes and functions to allow appropriate transport of cholesterol and lipids across cell membranes.

What does NPC1 stand for?

Niemann-Pick disease, type C1 (NPC1) is a disease of a membrane protein that mediates intracellular cholesterol trafficking in mammals. In humans the protein is encoded by the NPC1 gene (chromosome location 18q11).

What kind of protein is the NPC1 gene?

The protein encoded by this gene is a multi-pass membrane protein. It contains a conserved N-terminal Niemann-Pick C1 (NPC1) domain and a putative sterol-sensing domain (SSD) which includes a YQRL motif functioning as a plasma membrane to trans-Golgi network transport signal in other proteins.

What kind of diseases are associated with NPC1?

NPC1 (NPC Intracellular Cholesterol Transporter 1) is a Protein Coding gene. Diseases associated with NPC1 include Niemann-Pick Disease, Type C1 and Headache.

How is NPC1 like intracellular cholesterol transporter 1 related?

NPC1L1 (NPC1 Like Intracellular Cholesterol Transporter 1) is a Protein Coding gene. Diseases associated with NPC1L1 include Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 7 and Niemann-Pick Disease . Among its related pathways are Vitamin A and Carotenoid Metabolism and Fat digestion and absorption .

What happens to NPC1 in Niemann Pick Type C1?

In a mouse model carrying the underlying mutation for Niemann-Pick type C1 disease in the NPC1 protein, the expression of Myelin gene Regulatory Factor (MRF) has been shown to be significantly decreased. MRF is a transcription factor of critical importance in the development and maintenance of myelin sheaths.