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Asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog

GT8
This gene encodes a GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase which is localized to the cytosolic side of the endoplasmic reticulum (ER) and catalyzes the transfer of the fourth and fifth mannose residue from GDP-mannose (GDP-Man) to Man3GlcNAc2-PP-dolichol and Man4GlcNAc2-PP-dolichol resulting in the production of Man5GlcNAc2-PP-dolichol. Mutations in this gene are associated with congenital disorder of glycosylation type Ip (CDGIP). This gene overlaps but is distinct from the UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) gene. A pseudogene of the GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase has been identified on chromosome 19. [provided by RefSeq, Aug 2010] (from NCBI)
Papers on GT8
Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-Ip.
GeneRIF
Körner et al., Heidelberg, Germany. In Hum Mutat, 2012
After identifying the congenital disorders of glycosylation-Ip index patient, study describe three more cases suffering from an ALG11 deficiency.
A severe human metabolic disease caused by deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation-Ip.
GeneRIF
Körner et al., Heidelberg, Germany. In Hum Mol Genet, 2010
Deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation.
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