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Sequence of this protein is as follows: GQSYSVNVTF TSNIQSKSSK AVVHGILMGV PVPFPIPEPD GCKSGINCPI QKDKTYSYLN KLPVKSEYPS IKLVVEWQLQ DDKNQSLFCW EIPVQIVSHL
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 E1; He1; Human epididymis-specific protein 1; MGC1333; 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: EDDM1; HE1; NPC2
UniProt ID: (Human) P61916
Entrez Gene ID: (Human) 10577