A Gene Information Page is a comprehensive resource, gathering crucial information from various sources such as ClinVar, ClinGen, DECIPHER, and gnomAD.
A single gene search combined with a disease, phenotype, therapy, or category keyword leads you to the gene page, where you can find detailed information including gene-disease relationships, variant type and pathogenicity breakdown visual, and gene summary information.
We are excited to introduce you to the NPC1 gene, which encodes a large protein that resides in the limiting membrane of endosomes and lysosomes.
The NPC1 gene encodes a protein essential for the transport of cholesterol and other lipids within cells. Variants in the NPC1 gene are linked to Niemann-Pick disease types C and D and rare genetic disorders characterized by the abnormal accumulation of cholesterol and lipids in various tissues, leading to progressive neurological and liver dysfunction.
NPC1 is a gene that is 47 kilobases long and consists of 25 exons, with variable introns ranging in length from 0.097 to 7 kilobases. Its protein product, NPC1, is a multi-transmembrane protein that transports low-density lipoproteins to late endosomal/lysosomal compartments, where cholesterol is released. Variants in the NPC1 gene cause Niemann-Pick type C and D diseases, which is a rare neurodegenerative disorder that results in the accumulation of cholesterol and glycosphingolipids in these compartments leading to neurodegeneration and a progressive neurodegenerative disorder which results in a buildup of cholesterol and sphingomyelin in tissues, respectively.
Genomenon analyzed 51,810 articles to confirm the association between NPC1 and Niemann-Pick type C and D diseases. Within this gene, we identified and classified 20,700 variants, providing a comprehensive resource for elucidating disease mechanisms and enhancing diagnostic accuracy.
The results we’ve achieved in Mastermind highlight the platform’s unmatched capability in identifying and classifying genetic variants. For example, with the NPC1 gene, we’ve classified 10 times more variants than other major databases like ClinVar. This extensive coverage not only deepens our understanding of the genetic basis of Niemann-Pick disease types C and D but also greatly enhances diagnostic precision and the ability to offer tailored, patient-specific insights. The comprehensive data available in Mastermind ensures that researchers and clinicians have the most complete and current information, making it an essential resource for advancing research and clinical practice in rare genetic disorders.
Click here to see the gene page for this month’s featured gene, NPC1!
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