|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
CMT4F
periaxin
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:hereditary_spastic_paraplegia
Charcot-Marie-Tooth disease type 4F
|
|
gptkbp:discoveredIn
|
1997
|
|
gptkbp:encodes
|
periaxin protein
|
|
gptkbp:Entrez_Gene_ID
|
5639
|
|
gptkbp:expressedIn
|
Schwann cells
|
|
gptkbp:function
|
myelination of peripheral nerves
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
9346
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
PRX gene
|
|
gptkbp:involvedIn
|
Schwann cell elongation
maintenance of myelin sheath
|
|
gptkbp:length
|
1461 amino acids (long isoform)
681 amino acids (short isoform)
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_19
|
|
gptkbp:location
|
19q13.13-q13.2
|
|
gptkbp:mutationAssociatedWith
|
nonsense
missense
frameshift
splice-site
demyelinating neuropathy
|
|
gptkbp:OMIM
|
605725
|
|
gptkbp:orthologInMouse
|
Prx
|
|
gptkbp:proteinDomains
|
PDZ domain
acidic domain
|
|
gptkbp:referenceGenome
|
gptkb:GRCh38
|
|
gptkbp:UniProtID
|
O14579
|
|
gptkbp:bfsParent
|
gptkb:Dejerine–Sottas_disease
|
|
gptkbp:bfsLayer
|
8
|