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SMNDC1

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For Research Use Only. Not For Clinical Use.


Background

This gene is a paralog of SMN1 gene, which encodes the survival motor neuron protein, mutations in which are cause of autosomal recessive proximal spinal muscular atrophy. The protein encoded by this gene is a nuclear protein that has been identified as a constituent of the spliceosome complex. This gene is differentially expressed, with abundant levels in skeletal muscle, and may share similar cellular function as the SMN1 gene. [provided by RefSeq, Jul 2008]
Predicted location

Intracellular

Single cell type specificity

Low cell type specificity

Immune cell specificity

Low immune cell specificity

Cell line specificity

Low cell line specificity

Interaction

Associates with spliceosomes (PubMed:11331295). Associates with U4/U5/U6 tri-snRNP and with U2 snRNP (PubMed:11331295). Interacts (via Tudor domain) with SNRPD3 (via C-terminus); the interaction is direct (PubMed:22101937).

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