CYSLTR1 Chromosome X

Cysteinyl leukotriene receptor 1
1 variant 1 Health Risk

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What This Gene Does
This gene encodes a member of the G-protein coupled receptor 1 family. The encoded protein is a receptor for cysteinyl leukotrienes, and is involved in mediating bronchoconstriction via activation of a phosphatidylinositol-calcium second messenger system. Activation of the encoded receptor results in contraction and proliferation of bronchial smooth muscle cells, eosinophil migration, and damage to the mucus layer in the lung. Upregulation of this gene is associated with asthma and dysregulation may also be implicated in cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
Gene Info
Gene Group
Leukotriene receptors
Locus Type
gene with protein product
Location
Xq21.1
Ensembl
ENSG00000173198
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS773734601 Health Risk Conflicting classifications of pathogenicity
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