MAG

Chr 19

myelin associated glycoprotein

Also known as: GMA, S-MAG, SIGLEC-4A, SIGLEC4, SIGLEC4A, SPG75

NCBI Gene: 4099 ENSG00000105695 UniProt: P20916

The myelin-associated glycoprotein (MAG) is an adhesion molecule that mediates interactions between myelinating cells and neurons, maintains normal axon myelination, and protects motor neurons against apoptosis. Mutations cause spastic paraplegia 75, an autosomal recessive disorder affecting the corticospinal tracts. The gene is highly constrained against loss-of-function variants (LOEUF 0.424), indicating that MAG function is essential for normal neurological development and maintenance.

ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is a type I membrane protein and member of the immunoglobulin superfamily. It is thought to be involved in the process of myelination. It is a lectin that binds to sialylated glycoconjugates and mediates certain myelin-neuron cell-cell interactions. Three alternatively spliced transcripts encoding different isoforms have been described for this gene. [provided by RefSeq, Nov 2010]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtSpastic paraplegia 75, autosomal recessive

Clinical highlights

Gene-disease validity (ClinGen)

complex hereditary spastic paraplegia · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

620

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.42

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)