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COG7Church of God (Seventh Day)
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9] Human genes: MGAT2, mannosyl ([alpha]-1,6-)-glycoprotein [beta]-1,2-N-acetylglucos-aminyltransferase; B4GALT1, [beta]-1,4-galactosyltransferase 1; SLC35A1, solute carrier family 35 (CMP-sialic acid transporter), member A1 (other designation: CMP-sialic acid transporter); SLC35C1, solute carrier family 35, member C1 (other designation: GDP-fucose transporter); COG7, component of oligomeric Golgi complex 7 (other designation: subunit 7 of the conserved oligomeric Golgi complex); ATP6V0A2, ATPase, H+ transporting, lysosomal V0 subunit a2 (other designation: subunit V0 a2 of the lysosomal [H.
6] Nonstandard abbreviafions: CDG, congenital disorders of glycosylation; TIEF, transferrin isoelectric focusing; ApoC-III, apolipoprotein C-III; IEF, isoelectric focusing; Ga1NAc, N-acetylgalactosamine; NeuAc, sialic acid; FTC, familial tumoral calcinosis (MIM 211900); HIBM, hereditary inclusion body myopathy (MIM 600737); MEB, muscle-eye-brain disease (MIM 253280); HUS, hemolyfic uremic syndrome; HGPS, Hutchinson Gilford progeria syndrome (MIM 176670), F5FSD, a combined deficiency of factor V and factor VIII (MIM 227300); ER, endoplasmic reficulum; COG7, conserved oligomeric Golgi complex; CMP-NeuAc: cytidine 5'monophospho-N-acetylneuraminic acid; GNE/MNK, uridine-5'-diphosphate-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase; GALNT3, UDP-Ga1NAc transferase 3.
Bombay blood group 211100 FUT1 or FUT2 Para-Bombay blood group 211100 FUT1 Non-secretor blood group 182100 FUT2 Lewis-negative blood group 111100 FUT3 CDG-IIc 266265 FUCT1 CDG-IId 607091 B4GALT1 CDG-IIe 608779 COG7 CMRD 246700 SARA2 Anderson disease 607689 SARA2 CMRD with Marinesco--Sjogren syndrome 607692 SARA2 A.