small nuclear ribonucleoprotein associated protein N (SmN) [tissue-specific slicing factor] (SnRPN)

Introduction

The SmN protein is closely related to the constitutively expressed RNA splicing protein SmB, but is expressed only in brain & heart tissue. It is a polymorphic protein monoallelically expressed in fetal brain & heart & in adult brain. Analysis of maternal DNA & SmN cDNA indicate that the maternal allele of SmN is not expressed in fetal brain & heart. Mice which lack expression of SmN die shortly after birth suggesting a critical role for this protein possibly in the regulation of neuronal- specific alternative splicing events.

More general terms

• Sm (Smith) protein/antigen

Additional terms

• SMN complex

Database

• UniProt: http://www.uniprot.org/uniprot/P63162.html
• OMIM: https://mirror.omim.org/entry/182279