MST1R Chromosome 3
Macrophage stimulating 1 receptor
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What This Gene Does
This gene encodes a cell surface receptor for macrophage-stimulating protein (MSP) with tyrosine kinase activity. The mature form of this protein is a heterodimer of disulfide-linked alpha and beta subunits, generated by proteolytic cleavage of a single-chain precursor. The beta subunit undergoes tyrosine phosphorylation upon stimulation by MSP. This protein is expressed on the ciliated epithelia of the mucociliary transport apparatus of the lung, and together with MSP, thought to be involved in host defense. Alternative splicing generates multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Jan 2016]
Gene Info
Gene Group
"Receptor tyrosine kinases|CD molecules|IPT domain containing"
Locus Type
gene with protein product
Location
3p21.31
Ensembl
ENSG00000164078
Associated Conditions (4)
Multiple myeloma
Nasopharyngeal carcinoma
susceptibility to
3
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1575446356 | Health Risk | Likely pathogenic | Multiple myeloma, Multiple myeloma |
| RS200046052 | Health Risk | risk factor | Nasopharyngeal carcinoma, susceptibility to, 3 |