Immunogen sequence: EPVQFKDCGS VDGVIKEVNV SPCPTQPCQL SKGQSYSVNV TFTSNIQSKS SKAVVHGILM GVPVPFPIPE PDGCKSGINC PIQKDKTYSY LNKLPVKSEY PSIKLVVEWQ LQDDKNQSLF CWEIPVQIVS HL; Positive Samples: Mouse lung; Cellular Location: Endoplasmic reticulum, Lysosome
This gene encodes a protein containing a lipid recognition domain. The encoded protein may function in regulating the transport of cholesterol through the late endosomal/lysosomal system. Mutations in this gene have been associated with Niemann-Pick disease, type C2 and frontal lobe atrophy.
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Protein Aliases: epididymal protein 1; Epididymal secretory protein E1; He1; Human epididymis-specific protein 1; mE1; Niemann Pick type C2 protein homolog; Niemann-Pick disease type C2 protein; Niemann-Pick disease, type C2; NPC intracellular cholesterol transporter 2; tissue-specific secretory protein
Gene Aliases: 2700012J19Rik; AA408070; AU045843; EDDM1; HE1; NPC2