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NPC1L1

Synonyms
LDLCQ7, NPC11L1, SLC65A2
External resources
Summary
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. This protein takes up free cholesterol into cells through vesicular endocytosis and plays a critical role in the absorption of intestinal cholesterol. It also has the ability to transport alpha-tocopherol (vitamin E). The drug ezetimibe targets this protein and inhibits the absorption of intestinal cholesterol and alpha-tocopherol. In addition, this protein may play a critical role in regulating lipid metabolism. Polymorphic variations in this gene are associated with plasma total cholesterol and low-density lipoprotein cholesterol (LDL-C) levels and coronary heart disease (CHD) risk. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

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
16
Likely pathogenic
2
VUS
5,973
Likely benign
3,569
Benign
0

Patient phenotypes

Proportions of phenotypes among 15 patients carring pathogenic or likely pathogenic variants on NPC1L1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
60%
Abnormality of the ear
33.3%
Abnormality of the eye
26.7%
Abnormality of the musculoskeletal system
26.7%
Abnormality of head or neck
20%
Growth abnormality
20%
Abnormality of the cardiovascular system
13.3%
Abnormality of the genitourinary system
13.3%
Abnormality of blood and blood-forming tissues
6.7%
Abnormality of prenatal development or birth
6.7%
Abnormality of the endocrine system
6.7%
Abnormality of the integument
6.7%
Neoplasm
6.7%
Abnormal cellular phenotype
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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