Magnesium Transporter 1

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OMIM Number

300715

NCBI Gene ID

84061

Uniprot ID

Q9H0U3

Length

69,822 bases

No. of Exons

10

No. of isoforms

2

Protein Name

Magnesium transporter protein 1

Molecular Mass

38037 Da

Amino Acid Count

335

Genomic Location

chrX:77,825,746-77,895,567

Gene Map Locus
Xq21.1

Description

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. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NC_000023.11:g.76992100_77014098dupUnited Arab EmiratesNC_000023.11:g.76992100_77014098dupLikely PathogenicImmunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia
NM_032121.5:c.198+383G>CUnited Arab EmiratesNC_000023.11:g.77894926C>GNG_016390.1:g.5643G>C; NM_032121.5:c.198+383G>C; NP_115497.4:p.?
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