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lipophilin or myelin proteolipid protein gene
Pathology:
- point mutations give rise to Pelizaeus-Merzbacher disease & spastic paraplegia type-2
Related
myelin proteolipid protein; PLP; lipophilin (PLP1, PLP)
Pelizaeus-Merzbacher disease
General
unclassified gene
Properties
TEMPLATE-FOR: messenger RNA
TEMPLATE-FOR: myelin proteolipid protein
LOCUS: human X-chromosome
MOTIF: transcription factor binding site
transcriptional start site
exon
intron
transcriptional termination site
Database Correlations
OMIM 312080
References
PROSITE :accession {PS00575 PS01004}