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SYTM Rabbit Polyclonal Antibody, 100ul Variant Libraries Mutations affecting the coding region

SKU: 82539210510

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SYTM Rabbit Polyclonal Antibody, 100ul Variant Libraries Mutations affecting the coding regionThis gene encodes a member of the class II aminoacyl tRNA synthetase family. The encoded protein is a mitochondrial aminoacyl tRNA synthetase. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 4.

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Description

Mutations affecting the coding region of this gene or the splicing of the transcript have been associated with Borjeson-Forssman-Lehmann syndrome (BFLS)

Cell division cycle 25C directs dephosphorylation of cyclin B-bound CDC2 and triggers entry into mitosis

which is the second step in the de novo phospholipid biosynthetic pathway

Proteolytic processing of the encoded protein results in the release of a small peptide

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SYTM Rabbit Polyclonal Antibody, 100ul Variant Libraries Mutations affecting the coding regionThis gene encodes a member of the class II aminoacyl tRNA synthetase family. The encoded protein is a mitochondrial aminoacyl tRNA synthetase. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 4.

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