Pseudouridylate Synthase 1 (PUS1), Polyclonal Antibody

MLASA; tRNA pseudouridine (38-40) synthase; tRNA pseudouridine synthase A, mitochondrial; tRNA-uridine isomerase I

For Research Use Only. Not for use in diagnostic procedures.

Polyclonal

Rabbit

200ug/ml (lot specific)

Manufactured in an ISO 9001:2008 and ISO 13485:2003 Certified Laboratory.

Manufactured in a lab with traceable raw materials. Bulk orders can typically be prepared to the customer’s specifications, please inquire.

Small volumes of anti-PUS1 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

Western Blot (WB), Immunocytochemistry (ICC), Immunohistochemistry (IHC) Formalin/Paraffin, ELISA (ELISA)

44,377 Da

pseudouridylate synthase 1

tRNA pseudouridine synthase A, mitochondrial

tRNA pseudouridine synthase A, mitochondrial

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]

PUS1: Converts specific uridines to PSI in a number of tRNA substrates. Acts on positions 27/28 in the anticodon stem and also positions 34 and 36 in the anticodon of an intron containing tRNA. Involved in regulation of nuclear receptor activity possibly through pseudouridylation of SRA1 RNA. Defects in PUS1 are a cause of myopathy with lactic acidosis and sideroblastic anemia type 1 (MLASA1); also known as mitochondrial myopathy and sideroblastic anemia. MLASA is a rare autosomal recessive oxidative phosphorylation disorder specific to skeletal muscle and bone marrow. Belongs to the tRNA pseudouridine synthase TruA family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: EC 5.4.99.12; Isomerase; Nuclear receptor co-regulator; RNA processing; RNA-binding; Transcription, coactivator/corepressor

Chromosomal Location of Human Ortholog: 12q24.33

Cellular Component: mitochondrial matrix; mitochondrion; nucleus

Molecular Function: pseudouridine synthase activity

Biological Process: tRNA pseudouridine synthesis

Disease: Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1

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