MR1 Chromosome 1
Major histocompatibility complex, class I-related
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What This Gene Does
MAIT (mucosal-associated invariant T-cells) lymphocytes represent a small population of T-cells primarily found in the gut. The protein encoded by this gene is an antigen-presenting molecule that presents metabolites of microbial vitamin B to MAITs. This presentation may activate the MAITs to regulate the amounts of specific types of bacteria in the gut. Several transcript variants encoding different isoforms have been found for this gene, and a pseudogene of it has been detected about 36 kbp upstream on the same chromosome. [provided by RefSeq, Jul 2015]
Gene Info
Gene Group
"C1-set domain containing|Minor histocompatibility antigens"
Locus Type
gene with protein product
Location
1q25.3
Ensembl
ENSG00000153029
Associated Conditions (2)
Immunodeficiency
MR1-related disorder
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS41268456 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency, MR1-related disorder, Immunodeficiency |