MAGT1 magnesium transporter 1

Gene ID: 84061, updated on 3-Nov-2024
Gene type: protein coding
Also known as: IAP; XMEN; MRX95; OST3B; CDG1CC; PRO0756; SLC58A1; bA217H1.1

Summary

This gene encodes a ubiquitously expressed magnesium cation transporter protein that localizes to the cell membrane. This protein also associates with N-oligosaccharyl transferase and therefore may have a role in N-glycosylation. Mutations in this gene cause a form of X-linked intellectual disability (XLID). This gene may have multiple in-frame translation initiation sites, one of which would encode a shorter protein with an N-terminus containing a signal peptide at amino acids 1-29. [provided by RefSeq, Jul 2017]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Congenital disorder of glycosylation MedGen: C0282577GeneReviews: Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview	See labs
Congenital disorder of glycosylation, type ICC MedGen: C5231393OMIM: 301031GeneReviews: Not available	See labs
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia MedGen: C3275445OMIM: 300853GeneReviews: Not available	See labs

Copy number response

Description
Copy number response Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2021-09-22) ClinGen Genome Curation PagePubMed Triplosensitivity No evidence available (Last evaluated 2021-09-22) ClinGen Genome Curation Page

Genomic context

Location:: Xq21.1

Sequence:: Chromosome: X; NC_000023.11 (77825747..77895568, complement)

Total number of exons:: 10

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for MAGT1 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MAGT1 @ LOVD
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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