PUS1 抗体
(Pseudouridylate Synthase 1 (PUS1))
This gene encodes a pseudouridine synthase that converts uridine to pseudouridine once it has been incorporated into an RNA molecule. The encoded enzyme may play an essential role in tRNA function and in stabilizing the secondary and tertiary structure of many RNAs. A mutation in this gene has been linked to mitochondrial myopathy and sideroblastic anemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009].
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Latest Publications for our PUS1 抗体
: "A uniparental isodisomy event introducing homozygous pathogenic variants drives a multisystem metabolic disorder." in: Cold Spring Harbor molecular case studies, Vol. 5, Issue 6, (2019) (PubMed).Aliases for PUS1 抗体
pseudouridylate synthase 1 (PUS1) 抗体pseudouridylate synthase 1 (PVX_093530) 抗体
pseudouridylate synthase 1, putative (PKH_011400) 抗体
pseudouridine synthase 1 (Pus1) 抗体
pseudouridylate synthase 1 (Pus1) 抗体
A730013B20Rik 抗体
MLASA1 抗体
MPUS1 抗体
mPus1p 抗体
PUS1 抗体
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