LSM1 Chromosome 8
LSM1 homolog, mRNA degradation associated
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What This Gene Does
This gene encodes a member of the LSm family of RNA-binding proteins. LSm proteins form stable heteromers that bind specifically to the 3'-terminal oligo(U) tract of U6 snRNA and may play a role in pre-mRNA splicing by mediating U4/U6 snRNP formation. Increased expression of this gene may play a role in cellular transformation and the progression of several malignancies including lung cancer, mesothelioma and breast cancer. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, Nov 2011]
Gene Info
Gene Group
LSm proteins
Locus Type
gene with protein product
Location
8p11.23
Ensembl
ENSG00000175324
Associated Conditions (2)
Global developmental delay
FICUS syndrome
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2130643543 | Health Risk | Pathogenic/Likely pathogenic | Global developmental delay, FICUS syndrome, Global developmental delay |