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5375 PMP2

5375

PMP2

peripheral myelin protein 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition peripheral myelin protein 2

研究结论

Date Results Publications
2021-01-16 15:58:00 Cryo-EM, X-ray diffraction, and atomistic simulations reveal determinants for the formation of a supramolecular myelin-like proteolipid lattice. 32265298
2020-05-02 10:49:00 Peripheral myelin protein 2 - a novel cluster of mutations causing Charcot-Marie-Tooth neuropathy. 31412900
2019-07-20 11:11:00 High PMP2 expression is associated with melanoma cell invasion. 30506895
2019-02-09 10:06:00 These findings demonstrate that altered biophysical properties and functional dynamics of P2 may cause myelin defects in Charcot-Marie-Tooth disease 1 patients. 28747762
2018-12-22 10:08:00 The structural characterization of the F57A mutant of P2 which shows changes in the portal region and helix alpha2 and an unfolded status upon lipid bilayer binding. Further results suggest a central role for Phe57 in regulating the opening of the portal region in human P2, and the F57A mutation disturbs dynamic cross-correlation networks in the portal region of P2. 29940944

名称对应

Type IDs
Synonymous CMT1G, FABP8, M-FABP, MP2, P2
Gene
UniProtKB-ID: MYP2_HUMAN, E5RH45_HUMAN
UniprotKB: P02689, E5RH45
UniParc: UPI0001891FEC, UPI000013CEEB
EMBL: AC018616, CH471068, AK311758, CR541649, D16181, X62167, AH004648, BC034997, CR541738
Ensembl: ENSG00000147588
KO: hsa:5375
Nucleutide sequences
EMBL-CDS: EAW87090.1, AAH34997.1, BAA03726.1, CAG46538.1, AAB32592.2, CAG46450.1, BAG34701.1, CAA44096.1
Ensembl_TRS: ENST00000256103, ENST00000519260
Protein sequencees
Ensembl_PRO: ENSP00000256103, ENSP00000429917
RefSeq: NP_001335310.1, NP_002668.1
Others
UniRef100: UniRef100_P02689, UniRef100_E5RH45
UniRef90: UniRef90_P02689, UniRef90_A0A2I3HCX6
UniRef50: UniRef50_P04117, UniRef50_A0A2I3HCX6
UniGene: Hs.571512
CCDS: CCDS6229.1

全选

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