SMU1

Chr 9

SMU1 DNA replication regulator and spliceosomal factor

Also known as: BWD, SMU-1, fSAP57

NCBI Gene: 55234 ENSG00000122692 UniProt: Q2TAY7 OMIM: 617811

SMU1 encodes a protein that functions as a component of the spliceosome and is required for pre-mRNA splicing, mitotic spindle assembly, and normal progression through mitosis. Mutations cause autosomal recessive congenital pontocerebellar hypoplasia with microcephaly, typically presenting in the neonatal period with severe developmental delays and neurological impairment. This gene is highly constrained against loss-of-function variants, indicating that functional copies are essential for normal development.

OMIM ResearchSummary from RefSeq, UniProt

Involved in mRNA splicing, via spliceosome. Located in nucleus. Part of U2-type precatalytic spliceosome. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

LOF

Mechanism· predicted

Some data sources returned errors (1)