SNRPD1

Chr 18

small nuclear ribonucleoprotein D1 polypeptide

Also known as: HsT2456, SMD1, SNRPD, Sm-D1

NCBI Gene: 6632 ENSG00000167088 UniProt: P62316

The protein is a core component of small nuclear ribonucleoproteins (snRNPs) that are essential building blocks of the spliceosome, functioning in pre-mRNA splicing of both major and minor (U12-type) introns. Mutations cause autosomal recessive neurodevelopmental disorders with early childhood onset, typically involving intellectual disability, seizures, and brain malformations. The gene is highly constrained against loss-of-function variants (LOEUF 0.564), reflecting the critical importance of proper splicing for normal development.

ResearchSummary from RefSeq, UniProt

This gene encodes a small nuclear ribonucleoprotein that belongs to the SNRNP core protein family. The protein may act as a charged protein scaffold to promote SNRNP assembly or strengthen SNRNP-SNRNP interactions through nonspecific electrostatic contacts with RNA. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]

ResearchGenerating clinical summary…

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

0.56

LOEUF

LOF

Mechanism· predicted

Some data sources returned errors (1)

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