Synonyms:ALG8 alpha-1,3-glucosyltransferase, ALG8, CDG1H, ENTREZ:79053, HGNC:23161, MIM:608103, NM_001007027, NM_001007028, NM_024079, NP_001007028, NP_076984, PCLD3, XM_005274247, XM_011545252, XM_017018274, XP_005274304, XP_011543554, XP_016873763, XR_001747956, XR_428923, XR_950044, XR_950045
Omim:OMIM:608103
Id:ENSG00000159063
Hgnc:HGNC:23161
Description:ALG8 alpha-1,3-glucosyltransferase
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]