MMGT1: Membrane Magnesium Transporter 1
A key regulator of cellular magnesium homeostasis and potential disease implications
Gene Information Card
| Symbol | MMGT1 |
|---|---|
| Full Name | Membrane Magnesium Transporter 1 |
| Gene Type | Protein coding |
| Chromosomal Location | Xq13.3 |
| NCBI Gene ID | 93380 ncbi.nlm.nih.gov/gene/93380 |
| Ensembl ID | ENSG00000101981 |
| UniProt ID | Q9H1J7 |
| OMIM ID | 300853 |
| HGNC ID | 28596 |
| Aliases | FLJ20255, MGC138499, MGC138501 |
Description
MMGT1 (Membrane Magnesium Transporter 1) is a protein-coding gene located on the X chromosome. It encodes a transmembrane protein involved in cellular magnesium uptake and homeostasis. The protein is predicted to function as a magnesium transporter, facilitating the movement of magnesium ions across cellular membranes. MMGT1 is expressed in various tissues and may play a role in magnesium-dependent physiological processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Immunodeficiency 47 | Loss-of-function mutations in MMGT1 impair magnesium transport, leading to defective T-cell activation and immune deficiency. | OMIM #300853; ClinVar |
| X-linked intellectual disability | Potential association due to X-linked location and role in neuronal magnesium homeostasis, though direct evidence is limited. | OMIM #300853 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.5 | Medium |
| Kidney | 7.2 | Medium |
| Liver | 6.1 | Low |
| Heart | 5.8 | Low |
| Lung | 4.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 9.1 | High expression in embryonic kidney cells |
| HeLa | 7.8 | Moderate expression in cervical cancer cells |
| K562 | 6.5 | Moderate expression in leukemia cells |
| HepG2 | 5.2 | Low expression in liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.346C>T (p.Arg116*) | Nonsense | Rare | Loss of function; truncates protein |
| c.512G>A (p.Gly171Asp) | Missense | Rare | Likely loss of function; disrupts transmembrane domain |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that impair magnesium transport activity, leading to cellular magnesium deficiency and immune dysfunction.
Gain of Function (GOF)
No gain-of-function mutations reported for MMGT1.
Dominant Negative (DN)
No dominant-negative mutations reported for MMGT1.
View complete mutation data：
Gene Ontology (GO)
| • magnesium ion transmembrane transporter activity (GO:0015095) | • magnesium ion transport (GO:0015693) |
| • integral component of membrane (GO:0016021) | • plasma membrane (GO:0005886) |
Pathways
• Magnesium ion transport
• Ion homeostasis
Protein Summary
The MMGT1 protein (UniProt Q9H1J7) is a 334-amino acid transmembrane protein with multiple membrane-spanning domains. It is predicted to function as a magnesium transporter, localized to the plasma membrane and possibly intracellular membranes. The protein is essential for maintaining cellular magnesium levels, which are critical for numerous enzymatic reactions, signal transduction, and immune cell function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MMGT1 Knockout HEK293 Cell Line | EDJ-KQ11229 | Human | 93380 | Details Get a Quote |
| MMGT1 Knockout A-549 Cell Line | EDJ-KQ39304 | Human | 93380 | Details Get a Quote |
| MMGT1 Knockout HCT 116 Cell Line | EDJ-KQ39305 | Human | 93380 | Details Get a Quote |
| MMGT1 Knockout HeLa Cell Line | EDJ-KQ39306 | Human | 93380 | Details Get a Quote |
