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NPC1

Synonyms
NPC, POGZ, SLC65A1
External resources
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.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
5
Likely pathogenic
8
VUS
9,900
Likely benign
21,846
Benign
1,499

Patient phenotypes

Proportions of phenotypes among 13 patients carring pathogenic or likely pathogenic variants on NPC1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
46.2%
Abnormality of the genitourinary system
30.8%
Abnormality of the musculoskeletal system
30.8%
Abnormality of the cardiovascular system
23.1%
Abnormality of the eye
23.1%
Constitutional symptom
23.1%
Abnormality of blood and blood-forming tissues
15.4%
Abnormality of head or neck
15.4%
Abnormality of limbs
15.4%
Abnormality of the digestive system
15.4%
Growth abnormality
15.4%
Abnormality of the immune system
7.7%
Neoplasm
7.7%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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