QuickView for NPC1L1 (gene)

Gene Symbol:

NPC1L1 Homo sapiens

Full name:

NPC1 like intracellular cholesterol transporter 1

Synonyms:

NPC11L1, SLC65A2, Niemann-Pick C1-like protein 1, NPC1 (Niemann-Pick disease, type C1, gene)-like 1, NPC1 like 1

Genomic Location:

Chr 7: 44518659-44547439

Description:

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 throu...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Danio rerio ,  Pan troglodytes ,  Bos taurus ,  Canis lupus familiaris

External Links:

Entrez Gene

Cytogenetic Map:

7p13

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