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ALG12 ALG12 alpha-1,6-mannosyltransferase

Gene ID: 79087, updated on 23-Nov-2021
Gene type: protein coding
Also known as: CDG1G; ECM39; hALG12; PP14673

Summary

This gene encodes a member of the glycosyltransferase 22 family. The encoded protein catalyzes the addition of the eighth mannose residue in an alpha-1,6 linkage onto the dolichol-PP-oligosaccharide precursor (dolichol-PP-Man(7)GlcNAc(2)) required for protein glycosylation. Mutations in this gene have been associated with congenital disorder of glycosylation type Ig (CDG-Ig)characterized by abnormal N-glycosylation. [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
ALG12-congenital disorder of glycosylationSee labs
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
GeneReviews: Not available

Genomic context

Location:
22q13.33
Sequence:
Chromosome: 22; NC_000022.11 (49860163..49918469, complement)
Total number of exons:
12

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