SARS2 Antibody – Rabbit Polyclonal

This gene encodes the mitochondrial seryl-tRNA synthethase precursor, a member of the class II tRNA synthetase family. The mature enzyme catalyzes the ligation of Serine to tRNA(Ser) and participates in the biosynthesis of selenocysteinyl-tRNA(sec) in mitochondria. The enzyme contains an N-terminal tRNA binding domain and a core catalytic domain. It functions in a homodimeric form, which is stabilized by tRNA binding. This gene is regulated by a bidirectional promoter that also controls the expression of mitochondrial ribosomal protein S12. Both genes are within the critical interval for the autosomal dominant deafness locus DFNA4 and might be linked to this disease. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Mar 2009]

SARS2: Catalyzes the attachment of serine to tRNA(Ser). Is also able to aminoacylate tRNA(Sec) with serine, to form the misacylated tRNA L-seryl-tRNA(Sec), which will be further converted into selenocysteinyl-tRNA(Sec). Defects in SARS2 are the cause of hyperuricemia pulmonary hypertension renal failure and alkalosis (HUPRA). HUPRA is a multisystem disorder characterized by onset in infancy of progressive renal failure leading to electrolyte imbalances, metabolic alkalosis, pulmonary hypertension, hypotonia, and delayed development. Affected individuals are born prematurely. Belongs to the class-II aminoacyl-tRNA synthetase family. Type-1 seryl-tRNA synthetase subfamily. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Mitochondrial; Translation; Ligase; EC 6.1.1.11

Chromosomal Location of Human Ortholog: 19q13.2

Cellular Component: mitochondrion; mitochondrial matrix

Molecular Function: serine-tRNA ligase activity; ATP binding

Biological Process: seryl-tRNA aminoacylation; tRNA aminoacylation for protein translation; gene expression

Disease: Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis