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these studies establish potentially converging disease mechanisms in amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy, with ALS-causative mutants acquiring properties representing both gain and loss of function.
binding of TIA-1 (show TIA1 Proteins) in the vicinity of a 5' ss helps to stabilize U1 snRNP (show LSM2 Proteins) recruitment, at least in part, via a direct interaction with U1-C
This gene encodes one of the specific protein components of the U1 small nuclear ribonucleoprotein (snRNP) particle required for the formation of the spliceosome. The encoded protein participates in the processing of nuclear precursor messenger RNA splicing. snRNP particles are attacked by autoantibodies frequently produced by patients with connective tissue diseases. The genome contains several pseudogenes of this functional gene. Alternative splicing results in a non-coding transcript variant.
small nuclear ribonucleoprotein polypeptide C
, hypothetical protein
, U1 small nuclear RNP specific C
, U1 small nuclear ribonucleoprotein C
, U1 snRNP C
, U1 snRNP protein C
, U1 small nuclear ribonucleoprotein 1C