The PLP1 gene homepage

General information
Gene symbol PLP1
Gene name proteolipid protein 1
Chromosome X
Chromosomal band q22
Imprinted Unknown
Genomic reference NG_008863.1
Transcript reference NM_000533.3, NM_001128834.1, NM_199478.1
Associated with diseases ID, PMD, SPG-2
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 10
Unique public DNA variants reported 4
Individuals with public variants 9
Hidden variants 3
Date created November 30, -0001
Date last updated September 20, 2016
Version PLP1:160920

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:9086
Entrez Gene 5354
PubMed articles PLP1
OMIM - Gene 300401
OMIM - Diseases PMD (HLD-1)
SPG-2 (paraplegia, spastic, type 2 (SPG-2))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00013472 X transcript variant 3 NM_001128834.1 NP_001122306.1 10
00013473 X transcript variant 1 NM_000533.3 NP_000524.3 10
00013474 X transcript variant 2 NM_199478.1 NP_955772.1 10