Survival Motor Neuron Domain Containing Protein 1 (SMNDC1)

SMN orthologs have been identified in the nematode C. elegans and in the fission yeast S. pombe, suggesting a highly conserved or 'housekeeping' function for the gene.

The SMNR gene encodes a novel protein of 239 amino acids which had recently been identified as a constituent of the spliceosome complex and designated SPF30 by Neubauer et al. (1998). Northern blot analysis showed that SMNR is differentially expressed with abundant levels in skeletal muscle. Talbot et al. (1998) mapped the SMNR gene to 10q23 by PCR analysis of a panel of somatic cell hybrids, followed by identification of an STS that had been mapped to the Whitehead Institute Radiation Hybrid Panel corresponding to the 10q linkage group.