MCTS1 Chromosome X

MCTS1 re-initiation and release factor
3 variants 3 Health Risk

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What This Gene Does
Enables RNA cap binding activity; ribosomal small subunit binding activity; and translation factor activity, non-nucleic acid binding. Involved in IRES-dependent viral translational initiation; cytoplasmic translational initiation; and ribosome disassembly. Is active in cytoplasm. Implicated in immunodeficiency 118. [provided by Alliance of Genome Resources, Apr 2025]
Associated Conditions (1)
Immunodeficiency 118
Key Variants
All Variants (3)
RSID Category Clinical Significance Conditions
RS2521289319 Health Risk Pathogenic Immunodeficiency 118, Immunodeficiency 118
RS2521290553 Health Risk Pathogenic Immunodeficiency 118, Immunodeficiency 118
RS2521290612 Health Risk Pathogenic Immunodeficiency 118, Immunodeficiency 118
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