MAG Gene (Protein Coding)

Myelin Associated Glycoprotein

GC19P035292
GIFtS:
46
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 ... See more...

Aliases for MAG Gene

Aliases for MAG Gene

  • Myelin Associated Glycoprotein 2 3 5
  • Sialic Acid Binding Ig-Like Lectin 4A 2 3
  • Myelin-Associated Glycoprotein 3 4
  • SIGLEC-4A 2 3
  • SIGLEC4A 2 3
  • S-MAG 2 3
  • GMA 3 4
  • Sialic Acid-Binding Immunoglobulin-Like Lectin 4A 3
  • Siglec-4a 4
  • SPG75 3
  • MAG 5

External Ids for MAG Gene

Previous HGNC Symbols for MAG Gene

  • GMA

Previous GeneCards Identifiers for MAG Gene

  • GC19P036400
  • GC19P036231
  • GC19P040459
  • GC19P040474
  • GC19P035783
  • GC19P032291
  • GC19P035787
  • GC19P035956

Summaries for MAG Gene

Entrez Gene Summary for MAG Gene

  • 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]

GeneCards Summary for MAG Gene

MAG (Myelin Associated Glycoprotein) is a Protein Coding gene. Diseases associated with MAG include Spastic Paraplegia 75, Autosomal Recessive and Demyelinating Polyneuropathy. Among its related pathways are Signaling by GPCR and Spinal Cord Injury. Gene Ontology (GO) annotations related to this gene include carbohydrate binding. An important paralog of this gene is SIGLEC10.

UniProtKB/Swiss-Prot Summary for MAG Gene

  • 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).

Additional gene information for MAG Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MAG Gene

Genomics for MAG Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for MAG Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH19J035294 Enhancer 0.7 Ensembl dbSUPER 250.7 -1.4 -1424 0.2 ZNF600 ZNF341 ZNF316 MAFK ZNF398 ZNF18 KLF1 SCRT2 EMSY MAG USF2 FAM187B KRTDAP DMKN FFAR2 ENSG00000233214 ENSG00000268947 HSALNG0125594 HAMP
GH19J035290 Enhancer 0.6 FANTOM5 dbSUPER 264.3 -1.1 -1125 0.4 ZNF398 KLF1 ZFHX2 MAG USF2 FAM187B KRTDAP DMKN FFAR2 ENSG00000233214 LGI4 HPN FXYD7
GH19J035291 Enhancer 0.6 Ensembl dbSUPER 250.7 -0.6 -624 0.2 ZNF687 EGR2 ZFHX2 MAG USF2 FAM187B KRTDAP DMKN FFAR2 ENSG00000233214 HSALNG0125594 lnc-FAM187B-4 HAMP
GH19J035293 Enhancer 0.5 FANTOM5 dbSUPER 273.7 +1.4 1392 0.2 EZH2 MAG HSALNG0125594 LGI4 FXYD7 HPN SCN1B FXYD1 ARHGAP33 ZNF30 CD22
GH19J035292 Promoter/Enhancer 0.5 EPDnew dbSUPER 250.7 +0.0 17 0.1 HSALNG0125594 MAG CD22
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MAG on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MAG

Top Transcription factor binding sites by QIAGEN in the MAG gene promoter:
  • COUP
  • COUP-TF
  • COUP-TF1
  • GATA-2
  • HNF-4alpha1
  • HNF-4alpha2
  • p300
  • STAT3

Genomic Locations for MAG Gene

Latest Assembly
chr19:35,292,125-35,313,807
(GRCh38/hg38)
Size:
21,683 bases
Orientation:
Plus strand

Previous Assembly
chr19:35,783,064-35,804,710
(GRCh37/hg19 by Entrez Gene)
Size:
21,647 bases
Orientation:
Plus strand

chr19:35,783,028-35,804,707
(GRCh37/hg19 by Ensembl)
Size:
21,680 bases
Orientation:
Plus strand

Genomic View for MAG Gene

Genes around MAG on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MAG Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MAG Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for MAG Gene

Proteins for MAG Gene

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  • Protein details for MAG Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P20916-MAG_HUMAN
    Recommended name:
    Myelin-associated glycoprotein
    Protein Accession:
    P20916
    Secondary Accessions:
    • B7Z2E5
    • F5GYC0
    • Q15489
    • Q567S4

    Protein attributes for MAG Gene

    Size:
    626 amino acids
    Molecular mass:
    69069 Da
    Quaternary structure:
    • Monomer and homodimer (By similarity). Interacts (via the first three N-terminal Ig-like domains) with RTN4R and RTN4RL2 (By similarity). Interacts with RTN4R (PubMed:19052207). Interacts with isoform 2 of BSG (By similarity).

    Alternative splice isoforms for MAG Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MAG Gene

Protein Expression for MAG Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for MAG Gene

Other Protein References for MAG Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MAG Gene

Domains & Families for MAG Gene

Gene Families for MAG Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for MAG Gene

InterPro:
Blocks:
  • Immunoglobulin C-2 type
  • Immunoglobulin V-set

Suggested Antigen Peptide Sequences for MAG Gene

GenScript: Design optimal peptide antigens:
  • Siglec-4a (MAG_HUMAN)
  • Myelin associated glycoprotein (Q15489_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P20916

UniProtKB/Swiss-Prot:

MAG_HUMAN :
  • Belongs to the immunoglobulin superfamily. SIGLEC (sialic acid binding Ig-like lectin) family.
Family:
  • Belongs to the immunoglobulin superfamily. SIGLEC (sialic acid binding Ig-like lectin) family.
genes like me logo Genes that share domains with MAG: view

Function for MAG Gene

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  6. Cell Lines for research

Molecular function for MAG Gene

UniProtKB/Swiss-Prot Function:
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).
GENATLAS Biochemistry:
myelin associated glycoprotein,expressed on oligodendrocytes in the CNS and Schwann cells in the peripheral nervous system,interacting with neuronal processes,sialoadhesin family,Ig superfamily

Phenotypes From GWAS Catalog for MAG Gene

Gene Ontology (GO) - Molecular Function for MAG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 signaling receptor binding IEA --
GO:0008289 lipid binding IEA --
GO:0019901 protein kinase binding IEA --
GO:0030246 carbohydrate binding IEA --
GO:0033691 sialic acid binding ISS --
genes like me logo Genes that share ontologies with MAG: view
genes like me logo Genes that share phenotypes with MAG: view

Human Phenotype Ontology for MAG Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MAG Gene

MGI Knock Outs for MAG:
  • Mag Mag<tm1.1(KOMP)Vlcg>
  • Mag Mag<tm1Mtg>
  • Mag Mag<tm1Pop>
  • Mag Mag<tm1Rod>

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MAG

Clone products for research

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MAG Gene

Localization for MAG Gene

Subcellular locations from UniProtKB/Swiss-Prot for MAG Gene

Cell membrane. Single-pass type I membrane protein. Membrane raft.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MAG gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for MAG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane ISS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MAG: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MAG Gene

Pathways & Interactions for MAG Gene

genes like me logo Genes that share pathways with MAG: view

Pathways by source for MAG Gene

1 KEGG pathway for MAG Gene
1 GeneGo (Thomson Reuters) pathway for MAG Gene
  • Development MAG-dependent inhibition of neurite outgrowth
2 Qiagen pathways for MAG Gene
  • Guidance Cues and Growth Cone Motility
  • NgR-p75(NTR)-Mediated Signaling
1 Cell Signaling Technology pathway for MAG Gene

SIGNOR curated interactions for MAG Gene

Is activated by:

Gene Ontology (GO) - Biological Process for MAG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IBA,ISS --
GO:0007399 nervous system development IEA --
GO:0010977 negative regulation of neuron projection development ISS --
GO:0019226 transmission of nerve impulse IEA --
GO:0021762 substantia nigra development HEP --
genes like me logo Genes that share ontologies with MAG: view

Drugs & Compounds for MAG Gene

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(24) Drugs for MAG Gene - From: ClinicalTrials and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
rituximab Approved Pharma Therapeutic Antibodies 2114
Antibodies Pharma 8474
Antibodies, Monoclonal Pharma 4203
Antineoplastic Agents, Immunological Pharma 9354
Antirheumatic Agents Pharma 12815

(22) Additional Compounds for MAG Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MAG: view

Transcripts for MAG Gene

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mRNA/cDNA for MAG Gene

3 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MAG

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for MAG Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b · 4c · 4d ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13a · 13b
SP1: - -
SP2: - - -
SP3: - - -
SP4: - - - - - - - - - -
SP5: - - -
SP6: - - -
SP7: - -
SP8:

Relevant External Links for MAG Gene

GeneLoc Exon Structure for
MAG

Expression for MAG Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MAG Gene

mRNA expression in normal human tissues for MAG Gene
mRNA expression by GTEx for MAG GenemRNA expression by BioGPS for MAG Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MAG Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x17.1), Brain - Substantia nigra (x8.5), Brain - Hippocampus (x4.5), and Brain - Hypothalamus (x4.0).

Protein differential expression in normal tissues from HIPED for MAG Gene

This gene is overexpressed in Frontal cortex (29.9), Spinal cord (27.3), and Brain (11.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MAG Gene



Protein tissue co-expression partners for MAG Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MAG

SOURCE GeneReport for Unigene cluster for MAG Gene:

Hs.643440

mRNA Expression by UniProt/SwissProt for MAG Gene:

P20916-MAG_HUMAN
Tissue specificity: Both isoform 1 and isoform 2 are detected in myelinated structures in the central and peripheral nervous system, in periaxonal myelin and at Schmidt-Lanterman incisures (PubMed:9495552, PubMed:6200494). Detected in optic nerve, in oligodendroglia and in periaxonal myelin sheaths (PubMed:6200494). Detected in compact myelin (at protein level) (PubMed:6200494). Both isoform 1 and isoform 2 are detected in the central and peripheral nervous system (PubMed:9495552).

Evidence on tissue expression from TISSUES for MAG Gene

  • Nervous system(5)
  • Kidney(4.1)
  • Eye(2.3)
genes like me logo Genes that share expression patterns with MAG: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for MAG Gene

Orthologs for MAG Gene

This gene was present in the common ancestor of chordates.

Orthologs for MAG Gene

Organism Taxonomy Gene Similarity Type Details
Dog
(Canis familiaris)
 Mammalia MAG 29 30
  • 92.39 (n)
 OneToOne
Chimpanzee
(Pan troglodytes)
 Mammalia MAG 30
  • 90 (a)
 OneToOne
Cow
(Bos Taurus)
 Mammalia MAG 29 30
  • 89.7 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Mag 29
  • 88.66 (n)
Mouse
(Mus musculus)
 Mammalia Mag 29 16 30
  • 87.26 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia MAG 30
  • 86 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 30
  • 22 (a)
 OneToMany
Lizard
(Anolis carolinensis)
 Reptilia MAG 30
  • 59 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia mag 29
  • 60.04 (n)
Zebrafish
(Danio rerio)
 Actinopterygii mag 29 30
  • 51.97 (n)
 OneToOne
Species where no ortholog for MAG was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for MAG Gene

ENSEMBL:
Gene Tree for MAG (if available)
TreeFam:
Gene Tree for MAG (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MAG: view image
Alliance of Genome Resources:
Additional Orthologs for MAG

Paralogs for MAG Gene

Paralogs for MAG Gene

(1) SIMAP similar genes for MAG Gene using alignment to 4 proteins:

  • MAG_HUMAN
  • M0QZU4_HUMAN
  • M0R3B9_HUMAN
  • M0R3I4_HUMAN
genes like me logo Genes that share paralogs with MAG: view

Variants for MAG Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MAG Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
1029591 Uncertain Significance: Spastic paraplegia 75, autosomal recessive 35,299,679(+) G/T
NM_002361.4(MAG):c.541G>T (p.Gly181Trp) 		MISSENSE
1029592 Uncertain Significance: Spastic paraplegia 75, autosomal recessive 35,300,229(+) C/A
NM_002361.4(MAG):c.795C>A (p.Ser265Arg) 		MISSENSE
969102 Uncertain Significance: Spastic paraplegia 75, autosomal recessive 35,299,577(+) C/G
NM_002361.4(MAG):c.439C>G (p.Pro147Ala) 		MISSENSE
976540 Benign: not provided 35,295,812(+) C/T
NM_002361.4(MAG):c.246C>T (p.His82=) 		SYNONYMOUS
976659 Pathogenic: Spastic paraplegia 75, autosomal recessive 35,302,603(+) C/T
NM_002361.4(MAG):c.1126C>T (p.Gln376Ter) 		NONSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MAG Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for MAG Gene

Variant ID Type Subtype PubMed ID
dgv2010e59 CNV duplication 20981092
esv1006379 CNV deletion 20482838
esv1763084 CNV deletion 17803354
esv2758758 CNV loss 17122850
nsv510765 CNV deletion 20534489
nsv833810 CNV gain 17160897
nsv953283 CNV deletion 24416366
nsv9711 CNV loss 18304495

Variation tolerance for MAG Gene

Residual Variation Intolerance Score: 31.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.34; 63.21% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MAG Gene

Human Gene Mutation Database (HGMD)
MAG
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MAG
Leiden Open Variation Database (LOVD)
MAG

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MAG Gene

Disorders for MAG Gene

MalaCards: The human disease database

(54) MalaCards diseases for MAG Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
spastic paraplegia 75, autosomal recessive
  • spg75
demyelinating polyneuropathy
  • peripheral demyelinating neuropathy
polyneuropathy
  • polyneuropathies
optic neuritis
chronic polyneuropathy
- elite association - COSMIC cancer census association via MalaCards
Search MAG in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MAG_HUMAN
  • Spastic paraplegia 75, autosomal recessive (SPG75) [MIM:616680]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG75 is characterized by onset in early childhood and is associated with mild to moderate cognitive impairment. {ECO:0000269 PubMed:24482476, ECO:0000269 PubMed:26179919, ECO:0000269 PubMed:27606346}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for MAG

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with MAG: view

No data available for Genatlas for MAG Gene

Publications for MAG Gene

  1. Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorder. (PMID: 26179919) Lossos A … Peles E (Brain : a journal of neurology 2015) 3 4 72
  2. A family-based association study of the myelin-associated glycoprotein and 2',3'-cyclic nucleotide 3'-phosphodiesterase genes with schizophrenia. (PMID: 18496213) Voineskos AN … Kennedy JL (Psychiatric genetics 2008) 3 22 40
  3. Identification of the glycosylated sequons of human myelin-associated glycoprotein. (PMID: 7505568) Burger D … Steck AJ (Biochemical and biophysical research communications 1993) 3 4 22
  4. cDNA cloning and amino acid sequence for human myelin-associated glycoprotein. (PMID: 2476987) Sato S … Miyatake T (Biochemical and biophysical research communications 1989) 2 3 4
  5. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. (PMID: 24482476) Novarino G … Gleeson JG (Science (New York, N.Y.) 2014) 4 72

ExternalLinks

View latest publications for MAG gene in Mastermind

Products for MAG Gene

Sources for MAG Gene