Aliases for SMNDC1 Gene
External Ids for SMNDC1 Gene
Previous GeneCards Identifiers for SMNDC1 Gene
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]
GeneCards Summary for SMNDC1 Gene
SMNDC1 (Survival Motor Neuron Domain Containing 1) is a Protein Coding gene. Diseases associated with SMNDC1 include Spinal Muscular Atrophy and Proximal Spinal Muscular Atrophy. Among its related pathways are Gene Expression and mRNA Splicing - Major Pathway. Gene Ontology (GO) annotations related to this gene include RNA binding. An important paralog of this gene is SMN2.
UniProtKB/Swiss-Prot Summary for SMNDC1 Gene
Necessary for spliceosome assembly. Overexpression causes apoptosis.