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Immunogen sequence: PVQFKDCGSV DGVIKEVNVS PCPTQPCQLS KGQSYSVNVT FTSNIQSKSS KAVVHGILMG VPVPFPIPEP DGCKSGINCP IQKDKTYSYL NKLPVKSEYP SIKLVVEWQL QDDKNQSLFC WEIPVQIVSH
Highest antigen sequence identity to the following orthologs: Mouse - 81%, Rat - 82%.
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: epididymal protein 1; epididymal secretory protein 1; Epididymal secretory protein E1; He1; Human epididymis-specific protein 1; mE1; MGC1333; Niemann Pick type C2; Niemann Pick type C2 protein homolog; Niemann-Pick disease type C2 protein; Niemann-Pick disease, type C2; NP-C2; NPC intracellular cholesterol transporter 2; tissue-specific secretory protein
基因别名: 2700012J19Rik; AA408070; AU045843; EDDM1; HE1; NPC2; re1
UniProt ID: (Human) P61916, (Mouse) Q9Z0J0
Entrez Gene ID: (Human) 10577, (Mouse) 67963, (Rat) 286898