MAG Chromosome 19
Myelin associated glycoprotein
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What This Gene Does
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]
Gene Info
Gene Group
"C2-set domain containing|I-set domain containing|Sialic acid binding Ig like lectins"
Locus Type
gene with protein product
Location
19q13.1
Ensembl
ENSG00000105695
Associated Conditions (5)
Hereditary spastic paraplegia
Hereditary spastic paraplegia 75
MAG-related disorder
Nonpapillary renal cell carcinoma
Inborn genetic diseases
Key Variants
RS144553163
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia, Hereditary spastic paraplegia 75, MAG-related disorder
Health Risk
RS200576970
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 75, Inborn genetic diseases, Hereditary spastic paraplegia 75
Health Risk
RS200695849
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 75, Hereditary spastic paraplegia 75
Health Risk
RS201985838
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 75, Hereditary spastic paraplegia 75
Health Risk
RS35237014
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 75, MAG-related disorder, Hereditary spastic paraplegia 75
Health Risk
RS778356275
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 75, Hereditary spastic paraplegia 75
Health Risk
RS1555763342
Likely pathogenic
Health Risk
RS2513582014
Likely pathogenic
Hereditary spastic paraplegia 75, Hereditary spastic paraplegia 75
Health Risk
RS2513601109
Likely pathogenic
Hereditary spastic paraplegia 75, Hereditary spastic paraplegia 75
Health Risk
RS2066456693
Pathogenic
Hereditary spastic paraplegia 75, Hereditary spastic paraplegia 75
Health Risk
RS2301600
Pathogenic
Hereditary spastic paraplegia 75, Hereditary spastic paraplegia 75
Health Risk
RS587777229
Pathogenic
Hereditary spastic paraplegia 75, Hereditary spastic paraplegia 75
Health Risk
All Variants (16)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS144553163 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia, Hereditary spastic paraplegia 75, MAG-related disorder |
| RS200576970 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 75, Inborn genetic diseases, Hereditary spastic paraplegia 75 |
| RS200695849 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 75, Hereditary spastic paraplegia 75 |
| RS201985838 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 75, Hereditary spastic paraplegia 75 |
| RS35237014 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 75, MAG-related disorder, Hereditary spastic paraplegia 75 |
| RS778356275 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 75, Hereditary spastic paraplegia 75 |
| RS1555763342 | Health Risk | Likely pathogenic | — |
| RS2513582014 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 75, Hereditary spastic paraplegia 75 |
| RS2513601109 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 75, Hereditary spastic paraplegia 75 |
| RS2066456693 | Health Risk | Pathogenic | Hereditary spastic paraplegia 75, Hereditary spastic paraplegia 75 |
| RS2301600 | Health Risk | Pathogenic | Hereditary spastic paraplegia 75, Hereditary spastic paraplegia 75 |
| RS587777229 | Health Risk | Pathogenic | Hereditary spastic paraplegia 75, Hereditary spastic paraplegia 75 |
| RS770601245 | Health Risk | Pathogenic | Hereditary spastic paraplegia 75, Hereditary spastic paraplegia 75 |
| RS770788013 | Health Risk | Pathogenic | Hereditary spastic paraplegia 75, Hereditary spastic paraplegia 75 |
| RS771777424 | Health Risk | Pathogenic | Hereditary spastic paraplegia 75, Hereditary spastic paraplegia 75 |
| RS2066519362 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 75, Hereditary spastic paraplegia 75 |