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myelin proteolipid protein; PLP; lipophilin (PLP1, PLP)
Function:
- major myelin protein in CNS
- role in the formation or maintenance of the multilamellar structure of myelin
Structure: belongs to the myelin proteolipid protein family
Compartment: membrane
Alternative splicing: named isoforms=2
Pathology:
- defects in PLP1 are the cause of
a) Pelizaeus-Merzbacher disease
b) spastic paraplegia type-2
Laboratory:
- PLP1 gene mutation
- PLP1 gene duplication
Related
lipophilin or myelin proteolipid protein gene
PLP1 gene duplication
PLP1 gene mutation
General
myelin protein
transmembrane 4 protein
Properties
SIZE: entity length = 277 aa
MW = 30 kD
COMPARTMENT: myelin
CELL-REGION: myelin sheath
CELL: oligodendrocyte
WITHIN: central nervous system
MOTIF: cytoplasmic domain {2-9}
MOTIF: cysteine residue {C6}
MODIFICATION: palmitate
COMPARTMENT: membrane
cysteine residue {C7}
MODIFICATION: palmitate
COMPARTMENT: membrane
transmembrane domain {10-36}
MOTIF: cysteine residue {C10}
MODIFICATION: palmitate
COMPARTMENT: membrane
exoplasmic loop {37-63}
transmembrane domain {64-88}
cytoplasmic loop {89-151}
MOTIF: cysteine residue {C109}
MODIFICATION: palmitate
COMPARTMENT: membrane
cysteine residue {C139}
MODIFICATION: palmitate
COMPARTMENT: membrane
cysteine residue {C141}
MODIFICATION: palmitate
COMPARTMENT: membrane
transmembrane domain {152-177}
exoplasmic loop {178-233}
MOTIF: cysteine residue {C184}
MODIFICATION: cysteine residue {C228}
cysteine residue {C201}
MODIFICATION: cysteine residue {C220}
cysteine residue {C220}
MODIFICATION: cysteine residue {C201}
cysteine residue {C228}
MODIFICATION: cysteine residue {C184}
transmembrane domain {234-260}
cytoplasmic domain {261-277}
Database Correlations
OMIM correlations
MORBIDMAP 300401
UniProt P60201
Pfam PF01275
Entrez Gene 5354
Kegg hsa:5354
References
OMIM :accession 300401