LSM7

Chr 19

LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated

Also known as: LDCA, YNL147W

NCBI Gene: 51690 ENSG00000130332 UniProt: Q9UK45

LSM7 encodes a component of the LSM2-8 complex that binds to U6 snRNA and functions in pre-mRNA splicing as part of the U4/U6-U5 tri-snRNP complex during spliceosome assembly. Mutations cause autosomal recessive leukodystrophy and cerebellar atrophy. This affects the central nervous system with involvement of both white matter and the cerebellum.

ResearchSummary from RefSeq, OMIM, UniProt

Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; MIM 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM, Apr 2004]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtLeukodystrophy and cerebellar atrophy

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.84

LOEUF

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Mechanism

Some data sources returned errors (1)

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