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Immunogen sequence: DPENRLTPK ISFPWNEIRN ISYSDKEFTI KPLDKKIDVF KFNSSKLRVN KLILQLCIGN HDLFMRRRKA DSLEVQQMKA QAREEKARKQ MERQRLAREK QMREEAERTR DELERRLLQM KEEATMANEA LMRSEETADL LAEKAQITEE EAKLLAQKAA EAEQEMQRIK ATAIRTEEEK RLMEQKVLEA EVLALKMAEE SERRAKEADQ LKQDLQEARE AERRAKQKLL EIATKPTYPP MNPIPAPLPP DIPSFNLIGD SLSFDFKDTD MKRLSMEIEK EKVEYMEKSK HLQEQLNELK TEIEALKLKE RETALDILHN ENSDRGGSSK HNTIKKLTLQ SAKSRVAFFE EL (245-595 aa encoded by BC020257)
NF2 encodes a protein, Merlin, that is similar to some members of the ERM family of proteins that are thought to link cytoskeletal components with proteins in the cell membrane. Merlin has been shown to interact with cell-surface proteins, proteins involved in cytoskeletal dynamics and proteins involved in regulating ion transport. This gene is expressed at high levels during embryonic development; in adults, significant expression is found in Schwann cells, meningeal cells, lens and nerve. Mutations in this gene are associated with neurofibromatosis type II which is characterized by nervous system and skin tumors and ocular abnormalities. Two predominant isoforms and a number of minor isoforms are produced by alternatively spliced transcripts.
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: Merlin; MGC123124; moesin-ezrin-radixin like; Moesin-ezrin-radixin-like protein; moesin-ezrin-radizin-like protein; neurofibromatosis 2; neurofibromin 2 (bilateral acoustic neuroma); neurofibromin 2 (merlin); Neurofibromin-2; OTTHUMP00000199607; Schwannomerlin; Schwannomin
基因别名: ACN; BANF; merlin; Nf-2; NF2; SCH
UniProt ID: (Human) P35240, (Mouse) P46662, (Rat) Q63648
Entrez Gene ID: (Human) 4771, (Mouse) 18016, (Rat) 25744