Gene: RMC1

Alternate names for this Gene: C18orf8|HsT2591|MIC1|Mic-1|WDR98

Gene Summary: This gene encodes a colon cancer associated protein.

Gene is located in Chromosome: 18

Location in Chromosome : 18q11.2

Description of this Gene: regulator of MON1-CCZ1

Type of Gene: protein-coding

Gene: NPC1

Alternate names for this Gene: NPC|POGZ|SLC65A1

Gene Summary: This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - the last loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Pick type C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments.

Gene is located in Chromosome: 18

Location in Chromosome : 18q11.2

Description of this Gene: NPC intracellular cholesterol transporter 1

Type of Gene: protein-coding