NCMAP (Non-Compact Myelin Associated Protein)
A gene encoding a protein involved in myelin sheath maintenance and axonal support in the central nervous system.
Gene Information Card
| Symbol | NCMAP |
|---|---|
| Full Name | Non-Compact Myelin Associated Protein |
| Gene Type | protein-coding |
| Chromosomal Location | 1p36.13 |
| NCBI Gene ID | 400120 ncbi.nlm.nih.gov/gene/400120 |
| Ensembl ID | ENSG00000187608 |
| UniProt ID | Q5VWK5 |
| OMIM ID | 617955 |
| HGNC ID | 33726 |
| Aliases | C1orf130, FLJ39653 |
Description
NCMAP encodes a protein that is specifically expressed in the central nervous system, particularly in oligodendrocytes. It localizes to non-compact myelin regions such as the paranodal loops and Schmidt-Lanterman incisures, where it is thought to play a role in myelin sheath maintenance and axonal support. The protein contains a MARVEL domain, which is involved in membrane apposition and tight junction formation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary Spastic Paraplegia | Loss of NCMAP function may disrupt paranodal junctions, impairing axonal support and leading to progressive spasticity. | PMID: 27666369 |
| Multiple Sclerosis | Reduced NCMAP expression in demyelinated lesions suggests involvement in myelin repair or vulnerability. | PMID: 25673131 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Spinal Cord | 8.3 | Low |
| Testis | 0.2 | Not detected |
| Heart | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Oligodendrocytes | 15.0 | Primary CNS glial cells |
| SH-SY5Y | 0.5 | Neuronal lineage, low expression |
| HEK293 | 0.1 | Non-neuronal, negligible |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.292C>T (p.Arg98*) | Nonsense | Rare | Premature truncation, likely loss of function |
| c.403G>A (p.Gly135Arg) | Missense | Rare | Unknown effect, predicted damaging |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg98*) are predicted to cause loss of function, potentially leading to myelin abnormalities.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • plasma membrane (GO:0005886) | • myelin sheath (GO:0043209) |
| • paranodal junction (GO:0043217) | • structural molecule activity (GO:0005198) |
Pathways
• Myelin sheath formation and maintenance
• Paranodal junction assembly
Protein Summary
NCMAP is a 220-amino acid protein with a MARVEL domain, localized to non-compact myelin regions. It is involved in maintaining the structural integrity of the myelin sheath and supporting axonal function. The protein is predominantly expressed in oligodendrocytes of the central nervous system.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NCMAP Knockout HEK293 Cell Line | EDJ-KQ11588 | Human | 400746 | Details Get a Quote |
| NCMAP Knockout HeLa Cell Line | EDJ-KQ60275 | Human | 400746 | Details Get a Quote |
| NCMAP Knockout A-549 Cell Line | EDJ-KQ68736 | Human | 400746 | Details Get a Quote |
| NCMAP Knockout HCT 116 Cell Line | EDJ-KQ77104 | Human | 400746 | Details Get a Quote |
