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LSM1

Chr 8p11.23

LSM1 homolog, mRNA degradation associated

Aliases:
CASM, YJL124C
MANE:
ENST00000311351.9

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • FICUS syndrome

    0.50
  • Global developmental delay

    0.26
  • schizophrenia

    0.17
  • gout

    0.16
  • risk-taking behaviour

    0.13
  • Neurodevelopmental delay

    0.12
  • Generalized hypotonia

    0.12
  • Mitral stenosis

    0.12
  • Inguinal hernia

    0.12
  • Bicuspid aortic valve

    0.12

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

U6 snRNA-associated Sm-like protein LSm1

Plays a role in the degradation of histone mRNAs, the only eukaryotic mRNAs that are not polyadenylated (PubMed:18172165). Probably also part of an LSm subunits-containing complex involved in the general process of mRNA degradation (By similarity)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.