COG7


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COG7

A gene on chromosome 16p12.2 that encodes one of the 8 subunits of the conserved oligomeric Golgi (COG) complex, which is required for normal golgi morphology and localisation. COG7 mutations are associated with congenital disorder of glycosylation type IIe.
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References in periodicals archive ?
Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder.
[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.
For example, patients diagnosed with CDG-IIe (COG7 deficiency) have a phenotype with central nervous system involvement, hypotonia, and hepatopathy combined with severe congenital heart malformations, limb malformations, and skin abnormalities.