UGCG Chromosome 9
UDP-glucose ceramide glucosyltransferase
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What This Gene Does
This gene encodes an enzyme that catalyzes the first glycosylation step in the biosynthesis of glycosphingolipids, which are membrane components containing lipid and sugar moieties. The product of this reaction is glucosylceramide, which is the core structure of many glycosphingolipids. [provided by RefSeq, Dec 2014]
Gene Info
Gene Group
"UDP-glucose ceramide glucosyltransferases|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
9q31.3
Ensembl
ENSG00000148154
Associated Conditions (1)
Congenital nonbullous ichthyosiform erythroderma
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2118539976 | Health Risk | Conflicting classifications of pathogenicity | Congenital nonbullous ichthyosiform erythroderma, Congenital nonbullous ichthyosiform erythroderma |