|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:PMD
gptkb:PLP
SPG2
|
|
gptkbp:alternativeSplicing
|
produces DM20 isoform
|
|
gptkbp:associatedWith
|
Pelizaeus-Merzbacher disease
spastic paraplegia type 2
|
|
gptkbp:biologicalProcess
|
structural constituent of myelin sheath
|
|
gptkbp:encodes
|
proteolipid protein 1
|
|
gptkbp:Entrez_Gene_ID
|
5354
ENSG00000123560
|
|
gptkbp:expressedIn
|
gptkb:oligodendrocytes
central nervous system
neural development
|
|
gptkbp:foundIn
|
gptkb:Homo_sapiens
|
|
gptkbp:function
|
myelin sheath formation
|
|
gptkbp:HGNC_ID
|
9061
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
PLP1
|
|
gptkbp:locatedOnChromosome
|
Xq22
|
|
gptkbp:mutationAssociatedWith
|
deletion
missense mutation
duplication
nonsense mutation
frameshift mutation
dysmyelination
|
|
gptkbp:OMIM
|
300401
|
|
gptkbp:orthologIn
|
gptkb:Mus_musculus
|
|
gptkbp:product
|
DM20 protein
PLP protein
|
|
gptkbp:proteinFamily
|
myelin proteolipid protein family
|
|
gptkbp:relatedTo
|
X-linked inheritance
|
|
gptkbp:subcellularLocation
|
myelin membrane
|
|
gptkbp:UniProtID
|
P60201
|
|
gptkbp:bfsParent
|
gptkb:hypomyelinating_leukodystrophy
gptkb:SOX10
gptkb:oligodendrocytes
|
|
gptkbp:bfsLayer
|
7
|