ALG8 Summary

This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the second glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation of proteins. Mutations in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ih). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

ALG8 Details

Gene Symbol : ALG8

Gene Name : ALG8, alpha-1,3-glucosyltransferase

Chromosome : CHR 11: 781,396,59-781,009,41

Locus : 11q14.1

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NARS2 Summary

This gene encodes a putative member of the class II family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of asparagine to tRNA molecules. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency 24 (COXPD24). [provided by RefSeq, Mar 2015]

NARS2 Details

Gene Symbol : NARS2

Gene Name : Asparaginyl-tRNA synthetase 2, mitochondrial

Chromosome : CHR 11: 785,748,63-784,359,60

Locus : 11q14.1

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