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MAG

Chr 19q13.1

myelin associated glycoprotein

Aliases:
SIGLEC4A, SIGLEC-4A, S-MAG, SIGLEC4
MANE:
ENST00000392213.8

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Ataxia and cerebellar anomalies - narrow panel

    BIALLELIC, autosomal or pseudoautosomal
  • Childhood onset hereditary spastic paraplegia

    BIALLELIC, autosomal or pseudoautosomal
  • Hereditary neuropathy or pain disorder

    BIALLELIC, autosomal or pseudoautosomal
  • Hereditary spastic paraplegia

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal
  • Optic neuropathy

    BIALLELIC, autosomal or pseudoautosomal
  • Adult onset hereditary spastic paraplegia

    BIALLELIC, autosomal or pseudoautosomal
  • Adult onset neurodegenerative disorder

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • Autosomal recessive spastic paraplegia type 75

    0.79
  • complex hereditary spastic paraplegia

    0.37
  • orofacial cleft 1

    0.27
  • hereditary disease

    0.19
  • diabetes mellitus

    0.18
  • hereditary spastic paraplegia

    0.17
  • chronic inflammatory demyelinating polyradiculoneuropathy

    0.12
  • neuropathy

    0.11
  • Stroke

    0.10
  • Parkinson disease

    0.10

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Myelin-associated glycoprotein

Adhesion molecule that mediates interactions between myelinating cells and neurons by binding to neuronal sialic acid-containing gangliosides and to the glycoproteins RTN4R and RTN4RL2 (By similarity). Not required for initial myelination, but seems to play a role in the maintenance of normal axon myelination. Protects motoneurons against apoptosis, also after injury; protection against apoptosis is probably mediated via interaction with neuronal RTN4R and RTN4RL2. Required to prevent degeneration of myelinated axons in adults; this probably depends on binding to gangliosides on the axon cell membrane (By similarity). Negative regulator of neurite outgrowth; in dorsal root ganglion neurons the inhibition is mediated primarily via binding to neuronal RTN4R or RTN4RL2 and to a lesser degree via binding to neuronal gangliosides. In cerebellar granule cells the inhibition is mediated primarily via binding to neuronal gangliosides. In sensory neurons, inhibition of neurite extension depends only partially on RTN4R, RTN4RL2 and gangliosides. Inhibits axon longitudinal growth (By similarity). Inhibits axon outgrowth by binding to RTN4R (By similarity). Preferentially binds to alpha-2,3-linked sialic acid. Binds ganglioside Gt1b (By similarity)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.