PLLP (Plasmolipin)
Myelin proteolipid protein gene involved in leukodystrophy and multiple sclerosis susceptibility
Gene Information Card
| Symbol | PLLP |
|---|---|
| Full Name | Plasmolipin |
| Gene Type | protein-coding |
| Chromosomal Location | 16q13 |
| NCBI Gene ID | 51090 ncbi.nlm.nih.gov/gene/51090 |
| Ensembl ID | ENSG00000102931 |
| UniProt ID | Q9Y342 |
| OMIM ID | 602906 |
| HGNC ID | 9089 |
| Aliases | TM4SF11, MGC12966 |
Description
PLLP (plasmolipin) encodes a transmembrane proteolipid protein predominantly expressed in the central nervous system myelin. It belongs to the tetraspanin superfamily and is involved in myelin compaction and maintenance. Mutations in PLLP are associated with leukodystrophy and susceptibility to multiple sclerosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Leukodystrophy, hypomyelinating, 20 (HLD20) | Loss-of-function mutations impair myelin compaction | OMIM #618143 |
| Multiple sclerosis (susceptibility) | Altered expression may affect myelin stability | ClinVar, GWAS studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 25.3 | High |
| Spinal cord | 18.7 | High |
| Optic nerve | 15.2 | Medium |
| Testis | 2.1 | Low |
| Heart | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Oligodendrocytes (primary) | 35.0 | High expression |
| SH-SY5Y (neuroblastoma) | 1.2 | Low |
| HEK293 | 0.5 | Not detected |
| U87MG (glioblastoma) | 0.3 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.200C>T (p.Pro67Leu) | Missense | Rare | Loss of function; associated with HLD20 |
| c.346G>A (p.Gly116Arg) | Missense | Rare | Loss of function; myelin compaction defect |
| c.1A>G (p.Met1Val) | Start loss | Rare | Loss of function; no protein expression |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations reduce or abolish protein function, leading to hypomyelination.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • plasma membrane (GO:0005886) | • integral component of membrane (GO:0016021) |
| • axon ensheathment (GO:0008366) | • myelination (GO:0042552) |
| • protein binding (GO:0005515) |
Pathways
• Myelination (Reactome: R-HSA-9617629)
• Tetraspanin interactions (KEGG: hsa04514)
Protein Summary
Plasmolipin is a 152-amino-acid transmembrane protein with four membrane-spanning domains. It is highly expressed in oligodendrocytes and localized to compact myelin. The protein stabilizes myelin sheaths through interactions with other myelin proteins and lipids. Loss of function disrupts myelin compaction, leading to neurological deficits.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLLP Knockout HEK293 Cell Line | EDJ-KQ10199 | Human | 51090 | Details Get a Quote |
| PLLP Knockout A-549 Cell Line | EDJ-KQ38639 | Human | 51090 | Details Get a Quote |
| PLLP Knockout HCT 116 Cell Line | EDJ-KQ38641 | Human | 51090 | Details Get a Quote |
| PLLP Knockout HeLa Cell Line | EDJ-KQ38642 | Human | 51090 | Details Get a Quote |
