LSM11 Chromosome 5
LSM11, U7 small nuclear RNA associated
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What This Gene Does
Enables U7 snRNA binding activity. Involved in mRNA 3'-end processing by stem-loop binding activity and cleavage; positive regulation of G1/S transition of mitotic cell cycle; and regulation of chromatin organization. Located in nuclear body. Part of U7 snRNP and telomerase holoenzyme complex. Implicated in Aicardi-Goutieres syndrome. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
LSm proteins
Locus Type
gene with protein product
Location
5q33.3
Ensembl
ENSG00000155858
Associated Conditions (1)
Aicardi-Goutieres syndrome 8
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2113077087 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 8, Aicardi-Goutieres syndrome 8 |